rs80357971

minus

Geno	Mag	Summary
(-;A)	6	BRCA1 variant considered pathogenic for breast cancer
(-;AA)	6	BRCA1 variant considered pathogenic for breast cancer
(AA;AA)	0	Normal

Make rs80357971(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092849

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357971
dbSNP (classic)	rs80357971
ClinGen	rs80357971
ebi	rs80357971
HLI	rs80357971
Exac	rs80357971
Gnomad	rs80357971
Varsome	rs80357971
LitVar	rs80357971
Map	rs80357971
PheGenI	rs80357971
Biobank	rs80357971
1000 genomes	rs80357971
hgdp	rs80357971
ensembl	rs80357971
geneview	rs80357971
scholar	rs80357971
google	rs80357971
pharmgkb	rs80357971
gwascentral	rs80357971
openSNP	rs80357971
23andMe	rs80357971
SNPshot	rs80357971
SNPdbe	rs80357971
MSV3d	rs80357971
GWAS Ctlg	rs80357971

Max Magnitude

6

rs80357971, also known as 2800delAA, c.2681_2682delAA and p.Lys894Thrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

This BRCA1 mutation is generally considered to be a founder mutation from Scotland and Northern Ireland.[PMID 12698193 ]

23andMe name: i4000456

ClinVar
Risk	rs80357971(-;-)
Alt	rs80357971(-;-)
Reference	Rs80357971(AA;AA)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41244866_41244867delTT
CLNSRC	Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC	RCV000019236.11, RCV000047927.6, RCV000074575.7, RCV000131876.3,