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.81-11del
- Curation Version - 2.0
- Curation History
- JSON LD for Version 2.0
CA003895
37699 (ClinVar)
Gene: BRCA1
Condition: BRCA1-related cancer predisposition
Inheritance Mode: Autosomal dominant inheritance
UUID: 103a51b8-d098-4844-b998-328ce4a4acb7
Approved on: 2024-06-12
Published on: 2024-06-12
HGVS expressions
NM_007294.4:c.81-11del
NM_007294.4(BRCA1):c.81-11del
NC_000017.11:g.43115790del
CM000679.2:g.43115790del
NC_000017.10:g.41267807del
CM000679.1:g.41267807del
NC_000017.9:g.38521333del
NG_005905.2:g.102194del
ENST00000354071.8:n.145-11del
ENST00000461574.2:c.81-11del
ENST00000470026.6:c.81-11del
ENST00000473961.6:c.81-11del
ENST00000476777.6:c.81-11del
ENST00000477152.6:c.81-11del
ENST00000478531.6:c.81-11del
ENST00000489037.2:c.81-11del
ENST00000493919.6:c.-8+8227del
ENST00000494123.6:c.81-11del
ENST00000497488.2:c.-219+9481del
ENST00000618469.2:c.81-11del
ENST00000634433.2:c.81-11del
ENST00000644379.2:c.81-11del
ENST00000644555.2:c.-61-11del
ENST00000652672.2:c.-61-11del
ENST00000484087.6:c.81-11del
ENST00000700182.1:c.81-11del
ENST00000700183.1:c.81-11del
ENST00000700184.1:n.324-11del
ENST00000700185.1:n.200-11del
ENST00000357654.9:c.81-11del
ENST00000471181.7:c.81-11del
ENST00000642945.1:c.81-11del
ENST00000644555.1:c.-61-11del
ENST00000652672.1:c.-61-11del
ENST00000352993.7:c.81-11del
ENST00000354071.7:c.81-11del
ENST00000357654.7:c.81-11del
ENST00000461221.5:c.81-11del
ENST00000461798.5:c.81-11del
ENST00000468300.5:c.81-11del
ENST00000470026.5:c.81-11del
ENST00000471181.6:c.81-11del
ENST00000476777.5:c.81-11del
ENST00000477152.5:c.81-11del
ENST00000478531.5:c.81-11del
ENST00000489037.1:c.81-11del
ENST00000491747.6:c.81-11del
ENST00000492859.5:c.81-11del
ENST00000493795.5:c.-8+8227del
ENST00000493919.5:c.-8+8227del
ENST00000494123.5:c.81-11del
ENST00000497488.1:c.-219+9481del
ENST00000586385.5:c.4+9392del
ENST00000591534.5:c.-44+9481del
ENST00000591849.5:c.-99+9481del
ENST00000634433.1:c.81-11del
NM_007294.3:c.81-11del
NM_007297.3:c.-8+8227del
NM_007298.3:c.81-11del
NM_007299.3:c.81-11del
NM_007300.3:c.81-11del
NR_027676.1:n.242-11del
NM_007297.4:c.-8+8227del
NM_007299.4:c.81-11del
NM_007300.4:c.81-11del
NR_027676.2:n.283-11del
More
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.