Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene label mismatch: BRCA1 vs undefined
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • cspecId property did not resolve into a valid CSPEC request: https://cspec.genome.network/cspec-priv/SequenceVariantInterpretation/id/1530970171!
  • cspec.ruleSetIri property did not resolve into a valid CSPEC request: https://cspec.genome.network/cspec-priv/RuleSet/id/1530970184!
  • No CSPEC computed assertion could be determined for this classification!
  • See Evidence submitted by expert panel for details.

Variant: NM_007294.4(BRCA1):c.811G>A (p.Val271Met)

CA003905

55720 (ClinVar)

Gene: BRCA1
Condition: BRCA1-related cancer predisposition
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 9afa3126-7d99-40d8-bcb5-73b50671ddbd
Approved on: 2025-05-23
Published on: 2025-05-23

HGVS expressions

NM_007294.4:c.811G>A
NM_007294.4(BRCA1):c.811G>A (p.Val271Met)
NC_000017.11:g.43094720C>T
CM000679.2:g.43094720C>T
NC_000017.10:g.41246737C>T
CM000679.1:g.41246737C>T
NC_000017.9:g.38500263C>T
NG_005905.2:g.123264G>A
ENST00000354071.8:n.875G>A
ENST00000461574.2:c.811G>A
ENST00000470026.6:c.811G>A
ENST00000473961.6:c.685G>A
ENST00000476777.6:c.808G>A
ENST00000477152.6:c.733G>A
ENST00000478531.6:c.784+24G>A
ENST00000489037.2:c.733G>A
ENST00000493919.6:c.646+24G>A
ENST00000494123.6:c.811G>A
ENST00000497488.2:c.-78G>A
ENST00000618469.2:c.811G>A
ENST00000634433.2:c.688G>A
ENST00000644379.2:c.811G>A
ENST00000644555.2:c.646+24G>A
ENST00000652672.2:c.670G>A
ENST00000484087.6:c.664+24G>A
ENST00000700182.1:c.706+24G>A
ENST00000700183.1:c.*819G>A
ENST00000357654.9:c.811G>A
ENST00000471181.7:c.811G>A
ENST00000642945.1:c.*685G>A
ENST00000652672.1:c.670G>A
ENST00000352993.7:c.670+1126G>A
ENST00000354071.7:c.811G>A
ENST00000357654.7:c.811G>A
ENST00000412061.3:c.162G>A
ENST00000461221.5:c.*594G>A
ENST00000468300.5:c.787+24G>A
ENST00000470026.5:c.811G>A
ENST00000471181.6:c.811G>A
ENST00000473961.5:c.408G>A
ENST00000477152.5:c.733G>A
ENST00000478531.5:c.784+24G>A
ENST00000484087.5:c.409+24G>A
ENST00000487825.5:c.412+24G>A
ENST00000491747.6:c.787+24G>A
ENST00000492859.5:c.*747G>A
ENST00000493795.5:c.670G>A
ENST00000493919.5:c.646+24G>A
ENST00000494123.5:c.811G>A
ENST00000497488.1:c.-78G>A
ENST00000586385.5:c.4+30462G>A
ENST00000591534.5:c.-43-20199G>A
ENST00000591849.5:c.-99+30551G>A
ENST00000634433.1:c.688G>A
NM_007294.3:c.811G>A
NM_007297.3:c.670G>A
NM_007298.3:c.787+24G>A
NM_007299.3:c.787+24G>A
NM_007300.3:c.811G>A
NR_027676.1:n.947G>A
NM_007297.4:c.670G>A
NM_007299.4:c.787+24G>A
NM_007300.4:c.811G>A
NR_027676.2:n.988G>A
More

Benign

Met criteria codes 3
BA1 BS3 BP1_Strong
Not Met criteria codes 1
BS2

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
ENIGMA BRCA1 and BRCA2 VCEP
The c.811G>A variant in BRCA1 is a missense variant predicted to cause substitution of valine by methionine at amino acid 271 (p.Val271Met). The highest non-founder population filter allele frequency in gnomAD v4.1 (read depth ≥20) is 0.001630 in the East Asian population, which is above the ENIGMA BRCA1/2 VCEP threshold (>0.001) for BA1 (BA1 met). This missense variant is located outside of a key functional domain and was not predicted to alter mRNA splicing using SpliceAI (score 0.03, score threshold <0.1) (BP1_Strong met). Reported by one calibrated study to exhibit protein function similar to benign control variants (PMID:32546644) (BS3 met). In summary, this variant meets the criteria to be classified as a Benign variant for BRCA1-related cancer predisposition based on the ACMG/AMP criteria applied as specified by the ENIGMA BRCA1/2 VCEP (BA1, BP1_Strong, BS3).
Met criteria codes
BA1
The highest non-founder population filter allele frequency in gnomAD v4.1 (read depth ≥20) is 0.001630 in the East Asian population, which is above the ENIGMA BRCA1/2 VCEP threshold (>0.001) for BA1 (BA1 met).
BS3
Reported by one calibrated study to exhibit protein function similar to benign control variants (PMID:32546644) (BS3 met).
BP1_Strong
This missense variant is located outside of a key functional domain and was not predicted to alter mRNA splicing using SpliceAI (score 0.03, score threshold <0.1) (BP1_Strong met).
Not Met criteria codes
BS2
Variant described in trans with p.L63X (PMID: 16267036), but clinical features of the affected individual were not provided and could not be assessed for absence of Fanconi Anaemia. Please note that the journal article did not report the transcript ID used.
Curation History
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