rs80357637

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;T)	6	Seems miscall prone in both Ancestry and 23andMe data; otherwise, BRCA1 variant considered pathogenic for breast cancer
(T;T)	0	Normal

Make rs80357637(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43106525

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357637
dbSNP (classic)	rs80357637
ClinGen	rs80357637
ebi	rs80357637
HLI	rs80357637
Exac	rs80357637
Gnomad	rs80357637
Varsome	rs80357637
LitVar	rs80357637
Map	rs80357637
PheGenI	rs80357637
Biobank	rs80357637
1000 genomes	rs80357637
hgdp	rs80357637
ensembl	rs80357637
geneview	rs80357637
scholar	rs80357637
google	rs80357637
pharmgkb	rs80357637
gwascentral	rs80357637
openSNP	rs80357637
23andMe	rs80357637
SNPshot	rs80357637
SNPdbe	rs80357637
MSV3d	rs80357637
GWAS Ctlg	rs80357637

Max Magnitude

6

rs80357637, also known as 262delT, c.143_143delT and p.Met48Serfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357637(-;-)
Alt	rs80357637(-;-)
Reference	Rs80357637(T;T)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41258542delA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000030993.7, RCV000047475.4, RCV000129404.2,