rs80357835

minus

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

Make rs80357835(A;A)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092973

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357835
dbSNP (classic)	rs80357835
ClinGen	rs80357835
ebi	rs80357835
HLI	rs80357835
Exac	rs80357835
Gnomad	rs80357835
Varsome	rs80357835
LitVar	rs80357835
Map	rs80357835
PheGenI	rs80357835
Biobank	rs80357835
1000 genomes	rs80357835
hgdp	rs80357835
ensembl	rs80357835
geneview	rs80357835
scholar	rs80357835
google	rs80357835
pharmgkb	rs80357835
gwascentral	rs80357835
openSNP	rs80357835
23andMe	rs80357835
SNPshot	rs80357835
SNPdbe	rs80357835
MSV3d	rs80357835
GWAS Ctlg	rs80357835

Merged from

Rs397508980

Max Magnitude

6

rs80357835, also known as 2676insA, c.2557_2558insA and p.Asp853?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357835(A;A)
Alt	rs80357835(A;A)
Reference	Rs80357835(-;-)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41244990dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047876.2, RCV000111888.3,