rs80357829

minus

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

Make rs80357829(AA;AA)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092540

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357829
dbSNP (classic)	rs80357829
ClinGen	rs80357829
ebi	rs80357829
HLI	rs80357829
Exac	rs80357829
Gnomad	rs80357829
Varsome	rs80357829
LitVar	rs80357829
Map	rs80357829
PheGenI	rs80357829
Biobank	rs80357829
1000 genomes	rs80357829
hgdp	rs80357829
ensembl	rs80357829
geneview	rs80357829
scholar	rs80357829
google	rs80357829
pharmgkb	rs80357829
gwascentral	rs80357829
openSNP	rs80357829
23andMe	rs80357829
SNPshot	rs80357829
SNPdbe	rs80357829
MSV3d	rs80357829
GWAS Ctlg	rs80357829

Max Magnitude

6

rs80357829, also known as 3109insAA, c.2990_2991insAA and p.Asn997?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357829(AA;AA)
Alt	rs80357829(AA;AA)
Reference	Rs80357829(-;-)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41244558_41244559dupTT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048030.2, RCV000143831.5, RCV000164310.2, RCV000237066.1,