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 obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computed assertion could be determined for this classification!
CA001039
37421 (ClinVar)
Gene: BRCA1 (HGNC:672)
Condition: BRCA1-related cancer predisposition
(MONDO:0700268)
Inheritance Mode: Autosomal dominant inheritance
UUID: b6e085c9-0306-45c6-bca2-100ed3cf54e6
Approved on: 2026-07-15
Published on: 2026-07-15
HGVS expressions
NM_007294.4:c.154C>T
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe)
NC_000017.11:g.43106514G>A
CM000679.2:g.43106514G>A
NC_000017.10:g.41258531G>A
CM000679.1:g.41258531G>A
NC_000017.9:g.38512057G>A
NG_005905.2:g.111470C>T
ENST00000354071.8:n.218C>T
ENST00000461574.2:c.154C>T
ENST00000470026.6:c.154C>T
ENST00000473961.6:c.154C>T
ENST00000476777.6:c.154C>T
ENST00000477152.6:c.135-1558C>T
ENST00000478531.6:c.154C>T
ENST00000489037.2:c.135-1558C>T
ENST00000493919.6:c.13C>T
ENST00000494123.6:c.154C>T
ENST00000497488.2:c.-218-11654C>T
ENST00000618469.2:c.154C>T
ENST00000634433.2:c.154C>T
ENST00000644379.2:c.154C>T
ENST00000644555.2:c.13C>T
ENST00000652672.2:c.13C>T
ENST00000484087.6:c.154C>T
ENST00000700182.1:c.135-1558C>T
ENST00000700183.1:c.*90C>T
ENST00000700184.1:n.397C>T
ENST00000357654.9:c.154C>T
ENST00000471181.7:c.154C>T
ENST00000642945.1:c.*28C>T
ENST00000644555.1:c.13C>T
ENST00000652672.1:c.13C>T
ENST00000352993.7:c.154C>T
ENST00000354071.7:c.154C>T
ENST00000357654.7:c.154C>T
ENST00000461221.5:c.154C>T
ENST00000461798.5:c.154C>T
ENST00000468300.5:c.154C>T
ENST00000470026.5:c.154C>T
ENST00000471181.6:c.154C>T
ENST00000476777.5:c.154C>T
ENST00000477152.5:c.135-1558C>T
ENST00000478531.5:c.154C>T
ENST00000489037.1:c.135-1558C>T
ENST00000491747.6:c.154C>T
ENST00000492859.5:c.*90C>T
ENST00000493795.5:c.13C>T
ENST00000493919.5:c.13C>T
ENST00000494123.5:c.154C>T
ENST00000497488.1:c.-218-11654C>T
ENST00000586385.5:c.4+18668C>T
ENST00000591534.5:c.-44+18757C>T
ENST00000591849.5:c.-99+18757C>T
ENST00000634433.1:c.154C>T
NM_007294.3:c.154C>T
NM_007297.3:c.13C>T
NM_007298.3:c.154C>T
NM_007299.3:c.154C>T
NM_007300.3:c.154C>T
NR_027676.1:n.315C>T
NM_007297.4:c.13C>T
NM_007299.4:c.154C>T
NM_007300.4:c.154C>T
NR_027676.2:n.356C>T
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Evidence submitted by expert panel
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