rs80357685

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;A)	6	BRCA1 variant considered pathogenic for breast cancer

Make rs80357685(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092804

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357685
dbSNP (classic)	rs80357685
ClinGen	rs80357685
ebi	rs80357685
HLI	rs80357685
Exac	rs80357685
Gnomad	rs80357685
Varsome	rs80357685
LitVar	rs80357685
Map	rs80357685
PheGenI	rs80357685
Biobank	rs80357685
1000 genomes	rs80357685
hgdp	rs80357685
ensembl	rs80357685
geneview	rs80357685
scholar	rs80357685
google	rs80357685
pharmgkb	rs80357685
gwascentral	rs80357685
openSNP	rs80357685
23andMe	rs80357685
SNPshot	rs80357685
SNPdbe	rs80357685
MSV3d	rs80357685
GWAS Ctlg	rs80357685

Max Magnitude

6

rs80357685, also known as 2845insA, c.2726_2727insA and p.Asn909?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357685(A;A)
Alt	rs80357685(A;A)
Reference	Rs80357685(-;-)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41244822dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047947.6, RCV000111925.3,