RECQL4c.2569_2574delBenign

Print report

Variant interpretation report

RECQL4 c.2569_2574del, p.(Cys857_Thr858del)

NM_004260.3:c.2569_2574del NP_004251.3:p.(Cys857_Thr858del) View identifiers

Classification

Benign

Variant description:

No variant summary was recorded for this case.

Five-step scale from benign to pathogenic. This variant is benign. Select a step to read what it means.

Benign.A benign classification under the recorded framework.

In plain language

Gene-level background from the recorded interpretation.

About RECQL4

No gene-level summary was recorded for this case.

Key facts

Evidence used: 1 stand alone (benign) · 2 strong (benign) · 1 supporting (benign)
Expert rules: Not recorded
Other laboratories (ClinVar): 8 Benign · 1 Likely benign
Pipeline record: 24 Jul 2026 · version 7.0.4

Evidence considered

View criteria

Applied evidence criteria

BA1 (stand alone): This variant is present at high frequency in the general population. The grpmax filtering allele frequency in gnomAD v2.1 is 3.9% (Admixed American population), exceeding the BA1 threshold of >1%. Additionally, 30 homozygotes are observed in gnomAD v2.1 and 41 in v4.1, which is incompatible with a pathogenic variant causing Rothmund-Thomson syndrome (autosomal recessive, severe early-onset disorder).
BS1 (strong): This variant is present in gnomAD v2.1 at an allele frequency of 0.67%, exceeding the BS1 threshold of >0.3% for general population frequency. This frequency is inconsistent with a pathogenic variant causing Rothmund-Thomson syndrome.
BS2 (strong): Thirty homozygotes are observed in gnomAD v2.1 and 41 homozygotes in gnomAD v4.1. RECQL4 causes Rothmund-Thomson syndrome (autosomal recessive), a severe disorder with full penetrance expected at an early age. The presence of multiple apparently healthy homozygous adults in a population database is strong evidence that this variant is benign.
BP6 (supporting): This variant has been reported in ClinVar as Benign by 8 clinical laboratories and as Likely benign by 1 clinical laboratory (ClinVar variation ID 135140). Although the aggregate review status is 'criteria provided, single submitter' (1-star), the consistent classification across multiple independent clinical laboratories supports a benign interpretation at supporting strength level.

LYFE Sciences is an AI system, and it can make mistakes. Criteria may be applied incorrectly, sources may be misread, and a confident-looking classification can still be wrong. Double-check every criterion and its underlying evidence before relying on any call.

01The reasoning

How it was classified

The recorded framework is Not recorded. The criteria and strengths shown below come from the saved assessment; this page does not recalculate the classification.

Recorded applied criteria

The applied criteria and their strengths are shown as assessed under the stated framework.

Pathogenic evidence criteria: 0 Benign evidence criteria: 4

Pathogenic criteria applied · 0

No pathogenic criterion marked as applied in the recorded assessment.

Benign criteria applied · 4

BA1Stand alone

BA1 · stand alone

This variant is present at high frequency in the general population. The grpmax filtering allele frequency in gnomAD v2.1 is 3.9% (Admixed American population), exceeding the BA1 threshold of >1%. Additionally, 30 homozygotes are observed in gnomAD v2.1 and 41 in v4.1, which is incompatible with a pathogenic variant causing Rothmund-Thomson syndrome (autosomal recessive, severe early-onset disorder).

BS1Strong

BS1 · strong

This variant is present in gnomAD v2.1 at an allele frequency of 0.67%, exceeding the BS1 threshold of >0.3% for general population frequency. This frequency is inconsistent with a pathogenic variant causing Rothmund-Thomson syndrome.

BS2Strong

BS2 · strong

Thirty homozygotes are observed in gnomAD v2.1 and 41 homozygotes in gnomAD v4.1. RECQL4 causes Rothmund-Thomson syndrome (autosomal recessive), a severe disorder with full penetrance expected at an early age. The presence of multiple apparently healthy homozygous adults in a population database is strong evidence that this variant is benign.

BP6Supporting

BP6 · supporting

This variant has been reported in ClinVar as Benign by 8 clinical laboratories and as Likely benign by 1 clinical laboratory (ClinVar variation ID 135140). Although the aggregate review status is 'criteria provided, single submitter' (1-star), the consistent classification across multiple independent clinical laboratories supports a benign interpretation at supporting strength level.

Recorded classification: Benign

gene-specific framework lacked a usable explicit final combination framework, so generic ACMG/AMP 2015 final-combination rules were applied as fallback; applied criteria: BA1 stand-alone benign, BS1 strong benign, BS2 strong benign, BP6 supporting benign; combination = 1 stand-alone benign + 2 strong benign + 1 supporting benign, which maps to Benign.

02The sources

Evidence at a glance

Evidence summaries and captured source records, where available. Missing entries should not be interpreted as negative findings.

gnomAD v4.1

gnomAD v2.1

Population frequency

2,479 / 1,574,460 alleles

gnomAD v4.1: 2,479 / 1,574,460 alleles. Recorded AF 0.00157451. Recorded homozygote count 41.

gnomAD v2.1

This variant is present in gnomAD v2.1 (AF= 0.00667598; MAF= 0.66760%, 1462/218994 alleles, homozygotes = 30) and has highest observed frequency in the Admixed American population (AF= 0.041093; MAF= 4.10930%, 1158/28180 alleles, homozygotes = 27); grpmax FAF= 0.0390196.

gnomAD-Canada

This variant is present in gnomAD-Canada v1.0 (AF= 0.0017917254859376697, 33/18418 alleles, homozygotes = 0).

Applied · BA1, BS1, BS2 →

gnomAD v4.1 ↗gnomAD v2.1 ↗gnomAD-Canada ↗

SpliceAI score

0.000 maximum delta

Recorded SpliceAI maximum delta score: 0.000. Refer to the recorded PP3/BP4 rationale for interpretation.

No listed criterion applied SpliceAI ↗

ClinVar submissions

9 reported laboratory submissions

8 Benign · 1 Likely benign. ClinVar API review status: criteria provided, multiple submitters, no conflicts.

Applied · BP6 → ClinVar ↗

Functional evidence

Statement recorded

OncoKB did not identify variant-specific reviewed functional evidence for this variant; gene-level curated context is available for reviewer follow-up. RECQL4 encodes a DNA helicase that is involved in DNA replication and repair. Germline mutations of RECQL4 are associated with Rothmund-Thomson, RAPAD

No listed criterion applied OncoKB ↗

COSMIC

Cancer Hotspots

Somatic evidence

5 recorded samples

This variant has previously been reported in somatic cancers (COSMIC; COSV52879881, n = 5 times).

Cancer Hotspots

This variant does not lie in a statistically significant hotspot.

Context only

COSMIC ↗Cancer Hotspots ↗

For specialists

Technical detail

ACMG/AMP criteria under Not recorded, with the data and sources behind each one.

29 criteria with recorded statuses: 4 met · 10 not met · 7 not assessed · 8 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.

Pathogenic

PVS1 PS1 PS2 PS3 PS4 PM1 PM2 PM3 PM4 PM5 PM6 PP1 PP2 PP3 PP4 PP5 PS5

Benign

BA1 BS1 BS2 BS3 BS4 BP1 BP2 BP3 BP4 BP5 BP6 BP7

Met Not met Not assessed Not applicable

NM_004260.3:c.2569_2574del (p.Cys857_Thr858del) is an in-frame deletion of 6 nucleotides in exon 15 of RECQL4, encoding a DNA helicase associated with Rothmund-Thomson syndrome (autosomal recessive) and cancer predisposition.

This variant is present at high frequency in the general population: gnomAD v2.1 reports 1462 alleles out of 218,994 (0.67%) with 30 homozygotes, and a grpmax filtering allele frequency of 3.9% in the Admixed American population. gnomAD v4.1 reports 2479 alleles out of 1,574,460 (0.16%) with 41 homozygotes. The presence of 30 or more healthy homozygotes in population databases is incompatible with pathogenicity for a severe autosomal recessive disorder.

The variant meets BA1 (stand-alone benign): allele frequency exceeds 1% in the general population (grpmax FAF 3.9% in gnomAD v2.1). It also meets BS1 (strong benign): allele frequency exceeds 0.3% (global AF 0.67% in gnomAD v2.1), and BS2 (strong benign): 30 homozygotes are observed in a population database for a recessive disorder expected to be fully penetrant at an early age.

ClinVar reports this variant as Benign by 8 clinical laboratories and Likely benign by 1 laboratory (variation ID 135140), meeting BP6 (supporting benign).

No pathogenic criteria are met. PVS1 is not applicable as this is an in-frame deletion, not a null variant. No functional data (PS3), segregation data (PP1), or case-control data (PS4) support pathogenicity. All in silico evidence (SpliceAI delta 0.00; REVEL/BayesDel unavailable for deletion variants) is neutral. PM2 is not met due to the variant's high population frequency.

Classification: BENIGN. BA1 alone is sufficient for a benign classification per ACMG/AMP 2015 guidelines. The combination of BA1 + BS1 + BS2 + BP6 provides overwhelming evidence of benignity.

Met · 4

BA1 Stand aloneThis variant is present at high frequency in the general population. The grpmax filtering allele frequency in gnomAD v2.1 is 3.9% (Admixed American population), exceeding the BA1 threshold of >1%. Additionally, 30 homozygotes are observed in gnomAD v2.1 and 41 in v4.1, which is incompatible with a pathogenic variant causing Rothmund-Thomson syndrome (autosomal recessive, severe early-onset disorder). Details ▾Hide ▴

Evidence considered

gnomAD v2.1: 1462/218994 alleles (0.67%)
30 homozygotes
grpmax FAF 3.9% (AMR)
gnomAD v4.1: 2479/1574460 alleles (0.16%)
41 homozygotes
grpmax FAF 2.9% (AMR)
30+ healthy homozygotes in a severe autosomal recessive disorder is definitive evidence of benignity

Sources

gnomad_v2 ↗gnomad_v4 ↗

BS1 StrongThis variant is present in gnomAD v2.1 at an allele frequency of 0.67%, exceeding the BS1 threshold of >0.3% for general population frequency. This frequency is inconsistent with a pathogenic variant causing Rothmund-Thomson syndrome. Details ▾Hide ▴

Evidence considered

gnomAD v2.1 AF 0.67% (1462/218994 alleles)
exceeding 0.3% BS1 threshold

Sources

gnomad_v2 ↗

BS2 StrongThirty homozygotes are observed in gnomAD v2.1 and 41 homozygotes in gnomAD v4.1. RECQL4 causes Rothmund-Thomson syndrome (autosomal recessive), a severe disorder with full penetrance expected at an early age. The presence of multiple apparently healthy homozygous adults in a population database is strong evidence that this variant is benign. Details ▾Hide ▴

Evidence considered

30 homozygotes in gnomAD v2.1
41 homozygotes in gnomAD v4.1
all from a general population database of individuals not ascertained for disease

Sources

gnomad_v2 ↗gnomad_v4 ↗

BP6 SupportingThis variant has been reported in ClinVar as Benign by 8 clinical laboratories and as Likely benign by 1 clinical laboratory (ClinVar variation ID 135140). Although the aggregate review status is 'criteria provided, single submitter' (1-star), the consistent classification across multiple independent clinical laboratories supports a benign interpretation at supporting strength level. Details ▾Hide ▴

Evidence considered

ClinVar: Benign (8 clinical labs)
Likely benign (1 clinical lab)
variation ID 135140

Sources

clinvar ↗

Not met · 10 · evaluated, threshold not reached

PVS1 NM_004260.3:c.2569_2574del is an in-frame deletion of 6 nucleotides removing residues Cys857 and Thr858. It does not fall into the default PVS1 null-variant buckets (nonsense, frameshift, or canonical ±1,2 splice consensus variants) per ClinGen SVI PVS1 recommendations (PMC6185798). The generic PVS1 framework does not apply to in-frame deletions. Details ▾Hide ▴

Evidence considered

In-frame deletion of 2 amino acids
not a null variant
generic PVS1 framework not applicable per ClinGen SVI recommendations

Sources

pvs1_generic_framework ↗

PS3 No variant-specific functional data identified for NM_004260.3:c.2569_2574del. OncoKB reports unknown oncogenic effect with no variant-specific publications. The one paper flagged for PS3 screening (PMID:24728327) does not mention this variant. Details ▾Hide ▴

Evidence considered

OncoKB reports no variant-specific functional evidence
no publications identified with variant-specific functional data

Sources

oncokb ↗

PS4 This variant is present at high frequency in the general population (gnomAD v2.1 AF 0.67%, 30 homozygotes), which is inconsistent with pathogenicity. No case-control enrichment data are available, and the variant's prevalence in population databases argues against disease association. Details ▾Hide ▴

Evidence considered

gnomAD v2.1: 1462/218994 alleles (0.67%)
30 homozygotes
gnomAD v4.1: 2479/1574460 alleles (0.16%)
41 homozygotes

Sources

gnomad_v2 ↗gnomad_v4 ↗

PM1 This variant is not located in a statistically significant mutational hotspot (cancerhotspots.org). While RECQL4 has a characterized helicase domain, the deleted residues (C857-T858) are not in a well-characterized critical functional domain with evidence that disruption causes disease. No residue-specific functional domain characterization was identified for this position. Details ▾Hide ▴

Evidence considered

Not in a cancerhotspots.org hotspot
no domain-level evidence that the C857-T858 region constitutes a critical functional domain

Sources

oncokb ↗

PM2 This variant is present at high frequency in gnomAD (v2.1 AF 0.67%, v4.1 AF 0.16%), far exceeding the PM2 threshold of <0.1% for a recessive gene. The variant is not rare in population databases, with 30 homozygotes in v2.1. Details ▾Hide ▴

Evidence considered

gnomAD v2.1 AF 0.67% (1462/218994 alleles)
gnomAD v4.1 AF 0.16% (2479/1574460 alleles)
both well above 0.1% PM2 threshold

Sources

gnomad_v2 ↗gnomad_v4 ↗

PM4 Although this is an in-frame deletion causing a protein length change (loss of 2 residues), the variant is present at high frequency in the general population (gnomAD v2.1 AF 0.67%, 30 homozygotes), which is inconsistent with a pathogenic protein-length-altering variant in a recessive disease gene. The high population frequency overrides the technical eligibility for PM4. Details ▾Hide ▴

Evidence considered

In-frame deletion of 2 amino acids but population frequency (0.67%
30 homozygotes) incompatible with pathogenicity

Sources

gnomad_v2 ↗gnomad_v4 ↗

PP3 No in silico evidence supports a deleterious effect. SpliceAI predicts no splicing impact (max delta score 0.00). REVEL and BayesDel scores are unavailable as these tools are designed for single nucleotide variants, not in-frame deletions. No HCI prior score is available for RECQL4. Details ▾Hide ▴

Evidence considered

SpliceAI delta 0.00 (no splice impact)
REVEL/BayesDel not available (not SNV)

Sources

spliceai ↗

PP5 ClinVar reports this variant as Benign (8 clinical laboratories) and Likely benign (1 clinical laboratory), not pathogenic. PP5 requires a reputable source to report the variant as pathogenic. The ClinVar review status is 'criteria provided, single submitter' (1-star), which does not meet the threshold for PP5 application even if the classification were pathogenic. Details ▾Hide ▴

Evidence considered

ClinVar classification is Benign/Likely benign
not pathogenic
1-star review status

Sources

clinvar ↗

BP3 This is an in-frame deletion of two amino acids. There is no evidence that the deleted region (C857-T858) falls within a repetitive region without known function. The deletion removes residues from the RECQL4 protein and a functional consequence cannot be excluded based on location in a repetitive region. Details ▾Hide ▴

Evidence considered

No evidence that the C857-T858 region is a repetitive region without known function

BP4 SpliceAI predicts no splicing impact (max delta score 0.00), but this represents only a single line of computational evidence. BP4 requires multiple lines of computational evidence suggesting no impact. REVEL and BayesDel are unavailable for this deletion variant, and no other in silico tools provide evidence of a benign effect. Details ▾Hide ▴

Evidence considered

SpliceAI max delta 0.00 (no splice impact)
insufficient as sole computational evidence for BP4

Still missing

REVEL and BayesDel unavailable for non-SNV variants
insufficient computational evidence for BP4

Sources

spliceai ↗

Not assessed · 7 · no assessment recorded

PS2 No de novo data available for this variant. Details ▾Hide ▴

Still missing

No de novo observations available for assessment

PM6 No de novo data available for this variant. Details ▾Hide ▴

Still missing

No de novo observations available for assessment

PP1 No segregation data available for this variant. Details ▾Hide ▴

Still missing

No family segregation data available

PP4 No patient phenotype data available for assessment. Details ▾Hide ▴

Still missing

No patient-specific phenotype data available

BS3 No functional studies demonstrating no deleterious effect are available for this variant. Details ▾Hide ▴

Still missing

No benign functional studies available

BS4 No segregation data demonstrating lack of cosegregation with disease is available. Details ▾Hide ▴

Still missing

No family segregation data available

BP2 No cis/trans phase data are available for this variant. Details ▾Hide ▴

Still missing

No phase data available for assessment

Not applicable · 8· recorded as not applicable Show reasons ▾Hide reasons ▴

PS1 N/AThis is an in-frame deletion, not a single nucleotide change. PS1 requires a different nucleotide change at the same position with a pathogenic classification. Details ▾Hide ▴

No further detail was recorded.

PM3 N/ASkipped by instruction — PM3 is trivially not applicable. Details ▾Hide ▴

No further detail was recorded.

PM5 N/AThis is an in-frame deletion, not a missense variant. PM5 requires a different missense change at the same residue reported as pathogenic. The pm5_candidates module confirmed no classic same-residue PM5 semantics are applicable for this deletion. Details ▾Hide ▴

Evidence considered

In-frame deletion
not eligible for missense-based same-residue comparison per PM5
pm5_candidates.json confirms not_applicable

PP2 N/AThis is an in-frame deletion, not a missense variant. PP2 applies only to missense variants in genes with low rates of benign missense variation. Details ▾Hide ▴

No further detail was recorded.

BP1 N/AThis is an in-frame deletion, not a missense variant. BP1 applies only to missense variants in genes where primarily truncating variants cause disease. Details ▾Hide ▴

No further detail was recorded.

BP5 N/ABP5 applies when a variant is found in a case with an alternate molecular basis for disease. Not applicable here as the variant itself is under investigation. Details ▾Hide ▴

No further detail was recorded.

BP7 N/AThis is an in-frame deletion, not a synonymous (silent) variant. BP7 applies only to synonymous variants with no predicted splice impact. Details ▾Hide ▴

No further detail was recorded.

PS5 N/AThis is an in-frame deletion, not a single nucleotide change. PS5 requires a different nucleotide change at the same position that is reported as pathogenic. Details ▾Hide ▴

No further detail was recorded.

Identifiers

Gene: RECQL4
Transcript: NM_004260.3
Coding (HGVS c.): NM_004260.3:c.2569_2574del
Protein (HGVS p.): NP_004251.3:p.(Cys857_Thr858del)
GRCh38: chr8:144513027 TGGTGCA>T
GRCh37: chr8:145738410 TGGTGCA>T
COSMIC: COSV52879881

Gene diagram

Every interpreted variant in RECQL4, mapped onto the exon structure of NM_004260.3. Select a row to find it on the plot.

RECQL4NM_004260.3

Fetching transcript structure from UCSC…

Exons

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Transcript span

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Strand

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Variants mapped

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Source

UCSC ncbiRefSeqCurated

All variants in RECQL4 — Select a row to find it on the plot; use the link to open its page.

	Protein	Location	Classification	Link

gnomAD v4.1 2,479 / 1,574,460 alleles AF 0.00157 · 41 homozygotes · FAF 0.0289

gnomAD v2.1 1,462 / 218,994 alleles AF 0.00668 · 30 homozygotes · FAF 0.039

gnomAD-Canada v1.0 Allele count data not recorded

By genetic ancestry

gnomAD v4.1

AF 0.0016 · 2479 / 1,574,460 alleles · 41 hom · FAF 0.029

Admixed American1615 / 53,676	0.0336 hom
East Asian525 / 42,554	0.0124 hom
Remaining individuals89 / 61,074	0.00151 hom
African/African American71 / 74,132	0.00096
South Asian62 / 86,320	0.00072
European (non-Finnish)117 / 1,161,036	0.0001

0 alternate alleles recorded in 4 other groups: European (Finnish), Amish, Middle Eastern, Ashkenazi Jewish.

gnomAD v2.1

AF 0.0067 · 1462 / 218,994 alleles · 30 hom · FAF 0.039

Admixed American1158 / 28,180	0.04127 hom
East Asian232 / 14,878	0.0163 hom
Remaining individuals20 / 6,048	0.0033
African/African American24 / 18,884	0.0013
South Asian20 / 25,098	0.0008
European (non-Finnish)8 / 95,634	8.4e-05

0 alternate alleles recorded in 2 other groups: Ashkenazi Jewish, European (Finnish).

gnomAD-Canada

AF not recorded · ? / ? alleles

Statements

gnomAD v4.1

This variant is present in gnomAD v4.1 (AF= 0.00157451; MAF= 0.15745%, 2479/1574460 alleles, homozygotes = 41) and has highest observed frequency in the Admixed American population (AF= 0.0300879; MAF= 3.00879%, 1615/53676 alleles, homozygotes = 36); grpmax FAF= 0.0288668.

gnomAD v2.1

gnomAD-Canada

This variant is present in gnomAD-Canada v1.0 (AF= 0.0017917254859376697, 33/18418 alleles, homozygotes = 0).

Open the gnomAD-Canada detail page →

SpliceAI and Pangolin

Pangolin splice lossmagnitude shown

-0.050

Pangolin splice gain

0.010

Other predictors

REVEL: Not available
BayesDel: Not available

How the predictions were used

Evidence considered

SpliceAI delta 0.00 (no splice impact)
REVEL/BayesDel not available (not SNV)

Sources

spliceai ↗

Evidence considered

SpliceAI max delta 0.00 (no splice impact)
insufficient as sole computational evidence for BP4

Still missing

REVEL and BayesDel unavailable for non-SNV variants
insufficient computational evidence for BP4

Sources

spliceai ↗

BP7 N/AThis is an in-frame deletion, not a synonymous (silent) variant. BP7 applies only to synonymous variants with no predicted splice impact. Details ▾Hide ▴

No further detail was recorded.

Statement

In silico

SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00).

3 paper records listed. No publication is explicitly linked to an applied criterion in the recorded metadata. None of the listed paper records explicitly indicates that the variant is named.

Recorded publications

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Standards and guidelines for the interpretation of sequence variants (ACMG/AMP 2015). This is a methodological framework paper that does not mention any specific variants. NM_004260.3:c.2569_2574del was not identified in this paper.
Does not name this variant
PMID 25741868 ↗
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Profiled germline nonsynonymous variation in 158 cancer-susceptibility genes including RECQL4 in 681 healthy adults. RECQL4 is mentioned in the context of an ancestry-dependent common variant (rs4251691, p.Arg1005Gln at chr8:145737816, which is distinct from the c.2569_2574del position at chr8:145738410). NM_004260.3:c.2569_2574del was not identified in this paper.
Does not name this variant
PMID 24728327 ↗
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. This is a methodological framework paper for variant interpretation, not a variant-specific study.
Does not name this variant
PMID 28492532 ↗

Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.

gnomAD v4.1 2,479 / 1,574,460 recorded alleles Open source ↗

gnomAD v2.1 Captured gnomAD v2.1 source record Open source ↗

SpliceAI Lookup Recorded maximum delta 0.000 Open source ↗

ClinVar 8 Benign · 1 Likely benign Open source ↗

COSMIC Captured COSMIC source record Open source ↗

Cancer hotspots Captured Cancer Hotspots source record Open source ↗

OncoKB Captured OncoKB source record Open source ↗

All source links

Statements for reports

The evidence statements recorded by the interpretation pipeline. They have not been reinterpreted by the page.

gnomAD v4.1

gnomAD v2.1

gnomAD-Canada

This variant is present in gnomAD-Canada v1.0 (AF= 0.0017917254859376697, 33/18418 alleles, homozygotes = 0).

ClinVar

This variant has been reported in ClinVar as Benign (8 clinical laboratories) and as Likely benign (1 clinical laboratory). (ClinVarID = 135140)

In silico

SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00).

Functional

Somatic

This variant does not lie in a statistically significant hotspot. This variant has previously been reported in somatic cancers (COSMIC; COSV52879881, n = 5 times).

Cancer Hotspots

This variant does not lie in a statistically significant hotspot.