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 computer assertion could be determined for this classification!
Variant: NM_007294.4(BRCA1):c.5333-36_5406+400del
CA10602571
267601 (ClinVar)
Gene: BRCA1
Condition: BRCA1-related cancer predisposition
Inheritance Mode: Autosomal dominant inheritance
UUID: c5a3fb71-22c6-4f15-bbf5-51f07ad6eff3
Approved on: 2024-06-12
Published on: 2024-06-12
HGVS expressions
NM_007294.4:c.5333-36_5406+400del
NM_007294.4(BRCA1):c.5333-36_5406+400del
NC_000017.11:g.43048723_43049232del
CM000679.2:g.43048723_43049232del
NC_000017.10:g.41200740_41201249del
CM000679.1:g.41200740_41201249del
NC_000017.9:g.38454266_38454775del
NG_005905.2:g.168754_169263del
ENST00000461574.2:c.5330-36_5403+400del
ENST00000470026.6:c.5333-36_5406+400del
ENST00000473961.6:c.5207-36_5280+400del
ENST00000476777.6:c.5327-36_5400+400del
ENST00000477152.6:c.5255-36_5328+400del
ENST00000478531.6:c.2021-36_2094+400del
ENST00000489037.2:c.5255-36_5328+400del
ENST00000493919.6:c.1883-36_1956+400del
ENST00000494123.6:c.5333-36_5406+400del
ENST00000497488.2:c.4445-36_4518+400del
ENST00000618469.2:c.5333-36_5406+400del
ENST00000634433.2:c.5210-36_5283+400del
ENST00000644379.2:c.5399-36_5472+400del
ENST00000644555.2:c.1883-36_1956+400del
ENST00000652672.2:c.5192-36_5265+400del
ENST00000484087.6:c.1895-36_1968+400del
ENST00000700081.1:n.1180_1289+400del
ENST00000357654.9:c.5333-36_5406+400del
ENST00000471181.7:c.5396-36_5469+400del
ENST00000644379.1:c.1720-36_1793+400del
ENST00000352993.7:c.1907-36_1980+400del
ENST00000357654.7:c.5333-36_5406+400del
ENST00000461221.5:c.*5116-36_*5189+400del
ENST00000468300.5:c.2021-1527_2021-1018del
ENST00000471181.6:c.5396-36_5469+400del
ENST00000491747.6:c.2021-36_2094+400del
ENST00000493795.5:c.5192-36_5265+400del
ENST00000586385.5:c.263-36_336+400del
ENST00000591534.5:c.806-36_879+400del
ENST00000591849.5:c.32-36_105+400del
NM_007294.3:c.5333-36_5406+400del
NM_007297.3:c.5192-36_5265+400del
NM_007298.3:c.2021-36_2094+400del
NM_007299.3:c.2021-1527_2021-1018del
NM_007300.3:c.5396-36_5469+400del
NR_027676.1:n.5469-36_5542+400del
NM_007297.4:c.5192-36_5265+400del
NM_007299.4:c.2021-1527_2021-1018del
NM_007300.4:c.5396-36_5469+400del
NR_027676.2:n.5510-36_5583+400del
Evidence submitted by expert panel
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.