The CFTR NM_000492.4:c.3846G>A (NP_000483.3:p.(Trp1282Ter)) nonsense variant has previously been reported in somatic cancers (COSMIC; COSV99069637, n = 1 time). This variant is predicted to result in an absent or disrupted protein product. Experimental evidence: W1282X abolished chloride transport, while correction restored CFTR protein to approximately 10% of wild-type levels and restored channel activity. Based on available guidelines, this variant is considered to be Pathogenic. This variant is considered to be Pathogenic by the VCEP (CFTR2; ClinVar ID 7129).
Five-step scale from benign to pathogenic. This variant is pathogenic. Select a step to read what it means.
Pathogenic.A pathogenic classification under the recorded framework.
Gene-level background from the recorded interpretation.
Words with a dotted underline have a short definition. Hover or tap them.CFTR encodes an ATP-binding cassette family protein that functions as a chloride channel, helping regulate salt and water movement across epithelial tissues. Disruption of CFTR causes cystic fibrosis, an inherited disorder affecting the lungs, digestive system, and other organs; CFTR has no established primary role in cancer.
The recorded framework is Generic ACMG/AMP 2015 with ClinGen SVI recommendations. The criteria and strengths shown below come from the saved assessment; this page does not recalculate the classification.
The applied criteria and their strengths are shown as assessed under the stated framework.
Met at very strong strength: CFTR c.3846G>A is a nonsense variant producing W1282X, with minimal functional protein and abolished chloride transport.
Met, supporting: W1282X abolished chloride transport, while correction restored CFTR protein to approximately 10% of wild-type levels and restored channel activity.
Met: W1282X shows a computed case-control OR of 199.6 (95% CI 159.7-249.4), exceeding the >5.0 threshold with a confidence interval excluding 1.0.
Met at supporting: gnomAD v4.1 grpmax FAF is 6.312e-05, below the generic PM2 supporting threshold of 0.0001.
Met: ClinVar reports the exact c.3846G>A (p.Trp1282Ter) variant as Pathogenic by the CFTR2 expert panel, satisfying the instructed PP5 rule.
No benign criterion marked as applied in the recorded assessment.
Pathogenic: PVS1 (very strong) plus PS4 (strong) satisfy the generic ACMG/AMP 2015 Pathogenic rule, with PS3, PM2, and PP5 supporting.
Evidence summaries and captured source records, where available. Missing entries should not be interpreted as negative findings.
gnomAD v4.1: 421 / 1,613,376 alleles. Recorded AF 0.000260944. Recorded homozygote count 1.
This variant is present in gnomAD v2.1 (AF= 0.000428649; MAF= 0.04286%, 121/282282 alleles, homozygotes = 0) and has highest observed frequency in the Ashkenazi Jewish population (AF= 0.00965251; MAF= 0.96525%, 100/10360 alleles, homozygotes = 0); grpmax FAF= 8.828e-05.
Not available in gnomAD-Canada v1.0.
Recorded SpliceAI maximum delta score: 0.014. Refer to the recorded PP3/BP4 rationale for interpretation.
30 Pathogenic · 2 pathogenic. ClinVar API review status: practice guideline.
No standalone functional evidence summary is recorded in evidence_summary.functional.
This variant has previously been reported in somatic cancers (COSMIC; COSV99069637, n = 1 times).
This variant does not lie in a statistically significant hotspot.
ACMG/AMP criteria under Generic ACMG/AMP 2015 with ClinGen SVI recommendations, with the data and sources behind each one.
28 criteria with recorded statuses: 5 met · 3 not met · 10 not assessed · 10 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
PS4 is met from a directly verified affected-case frequency report and a computed matched-ancestry case-control comparison.
PP4 and BP5 remain not assessed because the patient phenotype/family history and alternate molecular basis are not provided.
PP5 is met only from the exact-variant ClinVar CFTR2 expert-panel Pathogenic classification; BP6 is not assessed because no benign expert-panel assertion is available.
No criteria match.
PVS1 is met at full strength. NM_000492.4:c.3846G>A is a nonsense variant in the relevant CFTR transcript, producing NP_000483.3:p.(Trp1282Ter) (W1282X) in exon 23. CFTR loss of function is an established disease mechanism in the supplied gene-level assessment. Variant-specific evidence describes W1282X as producing minimal functional CFTR protein and abolishing chloride transport, while CFTR premature-termination variants are associated with severe RNA reduction and little or no protein production. No named downgrade rule is triggered: this is not a terminal-exon or non-critical-distal-region exception, and there is no evidence that the predicted truncation escapes the relevant loss-of-function mechanism. Therefore the generic ACMG/AMP PVS1 definition is satisfied without downgrade.
PVS1: Null variant (nonsense, frameshift, canonical +/−1 or 2 splice sites, initiation codon, single or multi-exon deletion) in a gene where loss of function (LOF) is a known mechanism of disease.
PS3 is met at supporting strength. PMID:32332735 directly studied CFTR W1282X, corresponding to NM_000492.4:c.3846G>A and p.(W1282*), in homozygous human bronchial epithelial cells. The paper reports that W1282X produces minimal functional CFTR protein and abolishes chloride transport; adenine-base correction restored full-length CFTR protein to approximately 10% of wild-type levels and restored CFTR chloride-channel activity in corrected clones. This provides variant-specific, biologically relevant evidence of loss of CFTR function with a rescue control. The evidence is from a research cell model rather than validated, reproducible, and robust clinical diagnostic laboratory testing, so it does not justify stronger-than-supporting calibration under the generic rule.
Well-established in vitro or in vivo functional studies supportive of a damaging effect on the gene or gene product. Note: Functional studies that have been validated and shown to be reproducible and robust in a clinical diagnostic laboratory setting are considered the most well-established.
PS4 is met. Watson et al. (PMID:15371902) reported W1282X, corresponding to NM_000492.4:c.3846G>A / p.(W1282*), in 1.50% of 37,263 non-Hispanic Caucasian CF patient chromosomes. Using the matched-ancestry gnomAD v4.1 NFE control frequency of 90/1,179,672 alleles, the published rounded case frequency corresponds to approximately 559 case alleles; I computed the allele-frequency case-control OR as 199.6 with an approximate 95% CI of 159.7-249.4. The OR is >5.0 and the CI excludes 1.0. The paper did not print an OR, so this comparison was calculated from the reported case and control counts/frequencies.
The prevalence of the variant in affected individuals is significantly increased compared to the prevalence in controls. ... Relative risk (RR) or odds ratio (OR), as obtained from case-control studies, is >5.0 and the confidence interval around the estimate of RR or OR does not include 1.0.
PM2 supporting is met. No VCEP-specific source restriction governs this generic interpretation, so the all-comers gnomAD datasets are the default. The relevant grpmax FAF is 8.828e-05 in gnomAD v2.1 and 6.312e-05 in gnomAD v4.1, both at or below the generic PM2 supporting threshold of <=0.0001. The variant is observed at low frequency rather than absent, so it is not eligible for a stronger absence-based interpretation.
PM2 (supporting): <= 0.0001 — SVI recommendation to downgrade PM2 to Supporting (ClinGen SVI 2020)
Expert panel CFTR2 classified as Pathogenic.
Reputable source recently reports variant as pathogenic, but the evidence is not available to the laboratory to perform an independent evaluation.
BA1 is not met. Under the generic default, BA1 requires allele frequency >=0.05. The relevant filtering metric is gnomAD grpmax FAF, not the Ashkenazi Jewish popmax point estimate: grpmax FAF is 8.828e-05 in gnomAD v2.1 and 6.312e-05 in gnomAD v4.1, both far below 0.05. Although the Ashkenazi Jewish point estimates are approximately 0.965% and 0.943%, respectively, the variant is a well-documented CFTR W1282X pathogenic allele with an expert-panel pathogenic ClinVar record, so the default 5% rule cannot be used to override the disease association.
BA1 (stand-alone): >= 0.05 — ACMG/AMP 2015 stand-alone benign allele frequency (PMID:25741868)
BS1 is not met on the generic frequency threshold. The generic default is grpmax FAF >=0.01, and the appropriate filtering values are 8.828e-05 in gnomAD v2.1 and 6.312e-05 in gnomAD v4.1, both below 0.01. The Ashkenazi Jewish popmax point estimates near 0.95% are not used for BS1 because FAF, rather than popmax AF, is the required small-sample-resistant metric. The disease is cystic fibrosis, a severe early-onset autosomal-recessive disorder, so no reduced-penetrance or late-onset exception is supported by the available evidence.
BS1 (strong): >= 0.01 — Generic SVI default; per-gene derivation preferred (Whiffin et al. 2017) (PMID:28518168)
BS3 is not met. The available variant-specific functional study does not show no damaging effect; it reports that CFTR W1282X produces minimal functional protein and abolishes chloride transport in homozygous human bronchial epithelial cells. Correction of the variant restored CFTR protein and chloride-channel activity, which is evidence of damaging loss of function rather than preserved protein function or splicing.
Well-established in vitro or in vivo functional studies show no damaging effect on protein function or splicing.
The available case evidence does not document that NM_000492.4:c.3846G>A is de novo in the proband, does not provide confirmed maternity and paternity, and does not establish absence of a family history. Therefore the PS2 definition cannot be assessed.
De novo (both maternity and paternity confirmed) in a patient with the disease and no family history.
PM3 cannot be assessed from the available evidence. The governing recessive-disease path requires the variant to be detected in trans with a pathogenic variant and requires parent or offspring testing to determine phase. The case contains no phase-resolved parent/offspring testing, no affected-proband genotype demonstrating a pathogenic CFTR variant on the other allele, and no documented trans or cis relationship. ClinVar's pathogenic classification for c.3846G>A and aggregate reports of W1282X among CF patient chromosomes do not establish PM3 and are not used as a substitute for phase evidence.
For recessive disorders, detected in trans with a pathogenic variant ... This requires testing of parents (or offspring) to determine phase.
The available case evidence does not document an assumed de novo occurrence of NM_000492.4:c.3846G>A. There is no proband-level de novo observation or parental testing information sufficient to evaluate PM6.
Assumed de novo, but without confirmation of paternity and maternity.
The available case evidence does not identify multiple affected family members carrying NM_000492.4:c.3846G>A, provide informative meioses, or document segregation of the variant with disease. PP1 therefore cannot be assessed.
Co-segregation with disease in multiple affected family members in a gene definitively known to cause the disease.
PP4 cannot be assessed because the case materials do not provide the patient's clinical phenotype or family history. Population reports of W1282X in clinically diagnosed cystic fibrosis patients do not establish that this patient's phenotype is highly specific for cystic fibrosis.
Patient’s phenotype or family history is highly specific for a disease with a single genetic etiology.
BS2 is not assessed. gnomAD v4.1 reports one homozygote among 1,613,376 alleles, while gnomAD v2.1 reports no homozygotes; however, the record does not establish that the homozygous individual was a healthy adult, had reached the expected age of penetrance, or was phenotyped for cystic fibrosis. A homozygote count alone therefore cannot satisfy BS2.
Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
The available case evidence does not document affected family members who were tested negative for NM_000492.4:c.3846G>A. Without identified affected relatives, phenotype assessment, and genotype results, lack of segregation cannot be evaluated.
Lack of segregation in affected members of a family.
BP2 cannot be assessed from the available evidence. The rule requires either observation in trans with a pathogenic variant for a fully penetrant dominant gene/disorder or observation in cis with a pathogenic variant in any inheritance pattern. No phase-resolved cis observation with a pathogenic variant is documented, and no phase-resolved trans observation in a fully penetrant dominant disorder is documented. The ClinVar pathogenic classification of the target variant does not establish either BP2 allelic configuration.
Observed in trans with a pathogenic variant for a fully penetrant dominant gene/disorder or observed in cis with a pathogenic variant in any inheritance pattern.
BP5 cannot be assessed because the case materials contain no evidence that this variant was found in a case with an alternate molecular basis for disease. The variant's pathogenic ClinVar classification and CFTR literature do not establish an alternate molecular cause in the case.
Variant found in a case with an alternate molecular basis for disease.
BP6 cannot be assessed because no reputable source reports this exact variant as benign or likely benign. The available ClinVar expert-panel classification is Pathogenic, not benign, and no benign expert-panel assertion was identified.
Reputable source recently reports variant as benign, but the evidence is not available to the laboratory to perform an independent evaluation.
PS1 (Richards et al. 2015, PMID:25741868) requires the same amino acid change as a previously established pathogenic variant, evaluated regardless of the underlying nucleotide change. NM_000492.4:c.3846G>A in CFTR is a nonsense substitution introducing a premature stop codon predicted to produce NP_000483.3:p.(Trp1282Ter). As a result, no altered amino acid exists at this position to compare against any previously established pathogenic missense variant, so PS1's structural prerequisite is not met by this variant class. No VCEP criteria specification covers PS1 for CFTR, so the generic ACMG/AMP 2015 definition applies. This determination was made deterministically from the variant's consequence class, prior to LLM adjudication.
deterministic_prefilter: requires_missense
PM1 (Richards et al. 2015, PMID:25741868) applies to a missense variant located in a mutational hot spot and/or a critical, well-established functional domain without benign variation. NM_000492.4:c.3846G>A in CFTR is a nonsense substitution introducing a premature stop codon predicted to produce NP_000483.3:p.(Trp1282Ter). As a result, no altered residue exists to evaluate for mutational hot-spot or critical-domain membership, so PM1's structural prerequisite is not met by this variant class. No VCEP criteria specification covers PM1 for CFTR, so the generic ACMG/AMP 2015 definition applies. This determination was made deterministically from the variant's consequence class, prior to LLM adjudication.
deterministic_prefilter: requires_missense
PM4 (Richards et al. 2015, PMID:25741868) applies to protein length changes: in-frame insertions/deletions in a non-repetitive region, or stop-loss variants that extend the protein past the reference stop codon. NM_000492.4:c.3846G>A in CFTR is a nonsense substitution introducing a premature stop codon predicted to produce NP_000483.3:p.(Trp1282Ter). As a result, no change in protein length occurs, so there is nothing for this criterion to evaluate, so PM4's structural prerequisite is not met by this variant class. No VCEP criteria specification covers PM4 for CFTR, so the generic ACMG/AMP 2015 definition applies. This determination was made deterministically from the variant's consequence class, prior to LLM adjudication.
deterministic_prefilter: requires_stop_loss_or_nonrepeat_indel
PM5 (Richards et al. 2015, PMID:25741868) requires a novel missense change at an amino acid residue where a different missense change has previously been determined to be pathogenic. NM_000492.4:c.3846G>A in CFTR is a nonsense substitution introducing a premature stop codon predicted to produce NP_000483.3:p.(Trp1282Ter). As a result, no missense change exists at this residue to compare against a different pathogenic missense change at the same position, so PM5's structural prerequisite is not met by this variant class. No VCEP criteria specification covers PM5 for CFTR, so the generic ACMG/AMP 2015 definition applies. This determination was made deterministically from the variant's consequence class, prior to LLM adjudication.
deterministic_prefilter: requires_missense
PP2 (Richards et al. 2015, PMID:25741868) applies to a missense variant in a gene with a low rate of benign missense variation, where missense variants are a common mechanism of disease. NM_000492.4:c.3846G>A in CFTR is a nonsense substitution introducing a premature stop codon predicted to produce NP_000483.3:p.(Trp1282Ter). As a result, the gene's missense-constraint properties are irrelevant because no missense change is present to evaluate, so PP2's structural prerequisite is not met by this variant class. No VCEP criteria specification covers PP2 for CFTR, so the generic ACMG/AMP 2015 definition applies. This determination was made deterministically from the variant's consequence class, prior to LLM adjudication.
deterministic_prefilter: requires_missense
PP3 is not applicable because NM_000492.4:c.3846G>A is a nonsense variant producing p.(Trp1282Ter), a protein-length-changing truncating consequence outside the generic PP3 scope. The applicability decision is made before predictor review; therefore the available SpliceAI result and the BayesDel score are not used for PP3.
PP3/BP4 apply only to a missense variant, or to a splice-region/intronic variant via the SpliceAI path - never to a frameshift, nonsense, or other truncating/protein-length-changing variant.
BP1 (Richards et al. 2015, PMID:25741868) applies to a missense variant in a gene for which primarily truncating variants are known to cause disease. NM_000492.4:c.3846G>A in CFTR is a nonsense substitution introducing a premature stop codon predicted to produce NP_000483.3:p.(Trp1282Ter). As a result, the gene's truncating-variant mechanism is irrelevant because no missense change is present to evaluate, so BP1's structural prerequisite is not met by this variant class. No VCEP criteria specification covers BP1 for CFTR, so the generic ACMG/AMP 2015 definition applies. This determination was made deterministically from the variant's consequence class, prior to LLM adjudication.
deterministic_prefilter: requires_missense
BP3 (Richards et al. 2015, PMID:25741868) applies to in-frame insertions/deletions located in a repetitive region without a known function. NM_000492.4:c.3846G>A in CFTR is a nonsense substitution introducing a premature stop codon predicted to produce NP_000483.3:p.(Trp1282Ter). As a result, the variant does not alter protein length within a repeat region, so there is nothing for this criterion to evaluate, so BP3's structural prerequisite is not met by this variant class. No VCEP criteria specification covers BP3 for CFTR, so the generic ACMG/AMP 2015 definition applies. This determination was made deterministically from the variant's consequence class, prior to LLM adjudication.
deterministic_prefilter: requires_repeat_region_indel
BP4 is not applicable because NM_000492.4:c.3846G>A is a nonsense variant producing p.(Trp1282Ter), a protein-length-changing truncating consequence outside the generic BP4 scope. A no-splice-impact prediction cannot establish no impact on the gene product when the variant itself truncates the protein, so the available SpliceAI result is not used for BP4.
PP3/BP4 apply only to a missense variant, or to a splice-region/intronic variant via the SpliceAI path - never to a frameshift, nonsense, or other truncating/protein-length-changing variant.
BP7 (Richards et al. 2015, PMID:25741868) is defined for a synonymous (silent) variant for which splicing prediction algorithms predict no impact to the splice consensus sequence and the nucleotide is not highly conserved. NM_000492.4:c.3846G>A in CFTR is a nonsense substitution introducing a premature stop codon predicted to produce NP_000483.3:p.(Trp1282Ter). As a result, the encoded protein sequence is altered, so the criterion's silent-variant premise does not hold regardless of any splicing prediction, so BP7's structural prerequisite is not met by this variant class. No VCEP criteria specification covers BP7 for CFTR, so the generic ACMG/AMP 2015 definition applies. This determination was made deterministically from the variant's consequence class, prior to LLM adjudication.
deterministic_prefilter: requires_synonymous
Every interpreted variant in CFTR, mapped onto the exon structure of NM_000492.4. Select a row to find it on the plot.
| Protein | Location | Classification | Link |
|---|
| Ashkenazi Jewish279 / 29,578 | 0.00941 hom |
| Remaining individuals48 / 62,450 | 0.00077 |
| Middle Eastern1 / 6,078 | 0.00016 |
| European (non-Finnish)90 / 1,179,672 | 7.6e-05 |
| Admixed American2 / 59,928 | 3.3e-05 |
| African/African American1 / 74,882 | 1.3e-05 |
| Ashkenazi Jewish100 / 10,360 | 0.0097 |
| Remaining individuals3 / 7,210 | 0.00042 |
| European (non-Finnish)18 / 128,888 | 0.00014 |
This variant is present in gnomAD v4.1 (AF= 0.000260944; MAF= 0.02609%, 421/1613376 alleles, homozygotes = 1) and has highest observed frequency in the Ashkenazi Jewish population (AF= 0.00943269; MAF= 0.94327%, 279/29578 alleles, homozygotes = 1); grpmax FAF= 6.312e-05.
This variant is present in gnomAD v2.1 (AF= 0.000428649; MAF= 0.04286%, 121/282282 alleles, homozygotes = 0) and has highest observed frequency in the Ashkenazi Jewish population (AF= 0.00965251; MAF= 0.96525%, 100/10360 alleles, homozygotes = 0); grpmax FAF= 8.828e-05.
Not available in gnomAD-Canada v1.0.
PP3 is not applicable because NM_000492.4:c.3846G>A is a nonsense variant producing p.(Trp1282Ter), a protein-length-changing truncating consequence outside the generic PP3 scope. The applicability decision is made before predictor review; therefore the available SpliceAI result and the BayesDel score are not used for PP3.
PP3/BP4 apply only to a missense variant, or to a splice-region/intronic variant via the SpliceAI path - never to a frameshift, nonsense, or other truncating/protein-length-changing variant.
BP4 is not applicable because NM_000492.4:c.3846G>A is a nonsense variant producing p.(Trp1282Ter), a protein-length-changing truncating consequence outside the generic BP4 scope. A no-splice-impact prediction cannot establish no impact on the gene product when the variant itself truncates the protein, so the available SpliceAI result is not used for BP4.
PP3/BP4 apply only to a missense variant, or to a splice-region/intronic variant via the SpliceAI path - never to a frameshift, nonsense, or other truncating/protein-length-changing variant.
BP7 (Richards et al. 2015, PMID:25741868) is defined for a synonymous (silent) variant for which splicing prediction algorithms predict no impact to the splice consensus sequence and the nucleotide is not highly conserved. NM_000492.4:c.3846G>A in CFTR is a nonsense substitution introducing a premature stop codon predicted to produce NP_000483.3:p.(Trp1282Ter). As a result, the encoded protein sequence is altered, so the criterion's silent-variant premise does not hold regardless of any splicing prediction, so BP7's structural prerequisite is not met by this variant class. No VCEP criteria specification covers BP7 for CFTR, so the generic ACMG/AMP 2015 definition applies. This determination was made deterministically from the variant's consequence class, prior to LLM adjudication.
deterministic_prefilter: requires_synonymous
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.01). BayesDel score = 0.66.
9 paper records listed. 3 cited in the classification.
W1282X 1.50 0.63 0.24 0.00 45.92 2.20
Location Table 1, CFTR mutation frequency among individuals with clinically diagnosed cystic fibrosis by racial/ethnic group and in a pan-ethnic U.S. population
Context Population-based mutation-frequency analysis of CF patient chromosomes using Cystic Fibrosis Foundation and Cystic Fibrosis Consortium databases; 42,737 CF patient chromosomes were analyzed for mutations not included in the original ACMG 25 panel.
Thus, these 80 CFTR variants were predicted to be clinically deleterious4 and cystic fibrosis-causing
Location Results, Functional analysis
Context CFTR2 analysis of clinical and functional data from 39,696 individuals with cystic fibrosis; functional evaluation included CFTR RNA/protein processing and chloride-conductance assays, but no variant-specific result for c.3846G>A/p.(W1282*) is provided in the text.
The second most common CFTR nonsense mutations, W1282X25,26, is caused by a G>A mutation in exon 23 that produces minimal amount of functional CFTR protein and abolishes its Cl− transport activity27. A previous report showed that the human bronchial epithelial cell line (CFF-16HBEge CFTR W1282X), homozygous for W1282X mutation, recapitulates the phenotype of primary W1282X CF cells25, making it a good cell model to study the correction of CFTR mutation.
Location Results, “ABE corrects a nonsense mutation in cystic fibrosis model,” paragraph 1
Context Homozygous CFF-16HBEge human bronchial epithelial cells carrying CFTR W1282X were evaluated for base editing, CFTR protein expression, clone genotypes, and CFTR-mediated chloride-channel activity.
Speculatively, ivacaftor may be effective in combination with a suppressor in patients with CFTR variants that affect biosynthesis of CFTR (i.e., resulting in premature termination codons).
Linking CFTR genetic variants to ivacaftor effects in vitro and clinically, page 594
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
The evidence statements recorded by the interpretation pipeline. They have not been reinterpreted by the page.
This variant is present in gnomAD v4.1 (AF= 0.000260944; MAF= 0.02609%, 421/1613376 alleles, homozygotes = 1) and has highest observed frequency in the Ashkenazi Jewish population (AF= 0.00943269; MAF= 0.94327%, 279/29578 alleles, homozygotes = 1); grpmax FAF= 6.312e-05.
This variant is present in gnomAD v2.1 (AF= 0.000428649; MAF= 0.04286%, 121/282282 alleles, homozygotes = 0) and has highest observed frequency in the Ashkenazi Jewish population (AF= 0.00965251; MAF= 0.96525%, 100/10360 alleles, homozygotes = 0); grpmax FAF= 8.828e-05.
Not available in gnomAD-Canada v1.0.
This variant has been reported in ClinVar as Pathogenic (30 clinical laboratories) and as pathogenic (2 clinical laboratories) and as Pathogenic by CFTR2 (expert panel). (ClinVarID = 7129)
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.01). BayesDel score = 0.66.
This variant does not lie in a statistically significant hotspot. This variant has previously been reported in somatic cancers (COSMIC; COSV99069637, n = 1 times).
This variant does not lie in a statistically significant hotspot.