rs80357921

minus

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

Make rs80357921(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43091000

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357921
dbSNP (classic)	rs80357921
ClinGen	rs80357921
ebi	rs80357921
HLI	rs80357921
Exac	rs80357921
Gnomad	rs80357921
Varsome	rs80357921
LitVar	rs80357921
Map	rs80357921
PheGenI	rs80357921
Biobank	rs80357921
1000 genomes	rs80357921
hgdp	rs80357921
ensembl	rs80357921
geneview	rs80357921
scholar	rs80357921
google	rs80357921
pharmgkb	rs80357921
gwascentral	rs80357921
openSNP	rs80357921
23andMe	rs80357921
SNPshot	rs80357921
SNPdbe	rs80357921
MSV3d	rs80357921
GWAS Ctlg	rs80357921

Max Magnitude

6

rs80357921, also known as 4247delAA, c.4128_4129delAA and p.Thr1376_Ser1377ThrArgfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357921(-;-)
Alt	rs80357921(-;-)
Reference	Rs80357921(AA;AA)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41243017_41243018delTT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000112267.2, RCV000131892.3,