rs80357705

minus

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

Make rs80357705(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43070978

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357705
dbSNP (classic)	rs80357705
ClinGen	rs80357705
ebi	rs80357705
HLI	rs80357705
Exac	rs80357705
Gnomad	rs80357705
Varsome	rs80357705
LitVar	rs80357705
Map	rs80357705
PheGenI	rs80357705
Biobank	rs80357705
1000 genomes	rs80357705
hgdp	rs80357705
ensembl	rs80357705
geneview	rs80357705
scholar	rs80357705
google	rs80357705
pharmgkb	rs80357705
gwascentral	rs80357705
openSNP	rs80357705
23andMe	rs80357705
SNPshot	rs80357705
SNPdbe	rs80357705
MSV3d	rs80357705
GWAS Ctlg	rs80357705

Status

Merged into rs80357653

Max Magnitude

6

rs80357705, also known as 5055delG, c.4936_4936delG and p.Val1646Serfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357705(G;G)
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.41222995delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048699.2, RCV000112428.2, RCV000130668.3, RCV000236929.2,