Analysis in progress
Initialising…
0%
complete
This report is still being assembled — sections appear as each stage finishes. It isn't final yet.
Final classification
VUS
c.*24339G>A

NM_001202543.1:c.*24339G>A is a 3' UTR substitution in an unresolved gene. VariantValidator reports the coordinate is outside the bounds of the reference sequence, precluding gene-level normalization.

Gene
N/A
Transcript
N/A
HGVS · transcript:coding
NM_001202543.1:c.*24339G>A
Consequence
N/A
GRCh38
N/A
GRCh37
N/A
Basis gene-specific framework lacked a usable explicit final combination framework, so generic ACMG/AMP 2015 final-combination rules were applied as fallback; applied criteria: none; combination = no applied criteria, which maps to VUS. ▾
gene-specific framework lacked a usable explicit final combination framework, so generic ACMG/AMP 2015 final-combination rules were applied as fallback; applied criteria: none; combination = no applied criteria, which maps to VUS.
Classification rationale
VUS
c.*24339G>A

NM_001202543.1:c.*24339G>A is a 3' UTR substitution in an unresolved gene. VariantValidator reports the coordinate is outside the bounds of the reference sequence, precluding gene-level normalization.1 No population frequency data are available; gnomAD v2.1 and v4.1 returned null results, and gnomAD-Canada shows zero coverage (AC=0, AN=0) at this non-coding position. No ClinVar entries, literature reports, functional studies, cosegregation data, or in silico predictions are available for this variant. No ACMG/AMP pathogenic or benign criteria are met. The variant lacks sufficient evidence for any classification other than Uncertain Significance.2

1 pvs1_variant_assessment
2 generic_acmg_combination_rules
Applied criteria · 0 applied · 19 assessed
Applied · 0

No criteria were applied for this variant.

Assessed · not applied
Pathogenic
PS2 No de novo observation has been reported for NM_001202543.1:c.*24339G>A.
PS3 No well-established in vitro or in vivo functional studies have been identified for NM_001202543.1:c.*24339G>A.
PS4 No case-control or statistical evidence demonstrates enrichment of NM_001202543.1:c.*24339G>A in affected individuals.
PM1 No evidence places NM_001202543.1:c.*24339G>A in a mutational hotspot or well-established critical functional domain.
PM2 Population frequency data for NM_001202543.1:c.*24339G>A is unavailable.
PM6 No de novo observation with confirmed maternity/paternity has been reported for NM_001202543.1:c.*24339G>A.
PP1 No cosegregation data are available for NM_001202543.1:c.*24339G>A.
PP3 No in silico prediction tools support a deleterious effect for NM_001202543.1:c.*24339G>A.
PP4 No specific phenotype or family history data link NM_001202543.1:c.*24339G>A to disease.
PP5 No reputable source has classified NM_001202543.1:c.*24339G>A as pathogenic.
Benign
BA1 BA1 requires an allele frequency >1% in a reference population.
BS1 BS1 requires an allele frequency >0.3% in a reference population.
BS2 No observation of NM_001202543.1:c.*24339G>A in a healthy adult in the homozygous state, hemizygous state, or in trans with a known pathogenic variant has been reported.
BS3 No well-established functional studies demonstrate a neutral or benign effect for NM_001202543.1:c.*24339G>A.
BS4 No segregation data demonstrate lack of cosegregation with disease for NM_001202543.1:c.*24339G>A.
BP2 No observation of NM_001202543.1:c.*24339G>A in trans with a known pathogenic variant has been reported.
BP4 No in silico tools predict a benign or neutral effect for NM_001202543.1:c.*24339G>A.
BP5 No alternative molecular basis for disease has been identified in a case where NM_001202543.1:c.*24339G>A is present.
BP6 No reputable source has classified NM_001202543.1:c.*24339G>A as benign.
N/A · 9 PVS1 · PS1 · PM3 · PM4 · PM5 · PP2 · BP1 · BP3 · BP7
Research & evidence
Population frequency
v4.1
This variant is absent from gnomAD v4.1.
v2.1
This variant is absent from gnomAD v2.1.
🇨🇦 CA
This variant is absent from gnomAD-Canada.
Allele frequency by ancestry
three datasets · side by side
gnomAD Canada 🇨🇦
Absent · 0 / ?
0 hom
Not observed in any ancestry group.
gnomAD 🇨🇦 ↗
ClinVar No data
No ClinVar submissions were recorded for this variant.
In silico No data
No in-silico prediction was recorded for this variant.
Functional No data
No calibrated functional assay or RNA evidence was identified for this variant.
Somatic evidence
COSMIC
This variant has not previously been reported in somatic cancers (COSMIC).
Hotspots
This variant does not lie in a statistically significant cancer hotspot.
Sources & reference links

No sources recorded.