rs80357975

minus

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

Make rs80357975(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43063346

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357975
dbSNP (classic)	rs80357975
ClinGen	rs80357975
ebi	rs80357975
HLI	rs80357975
Exac	rs80357975
Gnomad	rs80357975
Varsome	rs80357975
LitVar	rs80357975
Map	rs80357975
PheGenI	rs80357975
Biobank	rs80357975
1000 genomes	rs80357975
hgdp	rs80357975
ensembl	rs80357975
geneview	rs80357975
scholar	rs80357975
google	rs80357975
pharmgkb	rs80357975
gwascentral	rs80357975
openSNP	rs80357975
23andMe	rs80357975
SNPshot	rs80357975
SNPdbe	rs80357975
MSV3d	rs80357975
GWAS Ctlg	rs80357975

Status

Merged into rs80357867

Max Magnitude

6

rs80357975, also known as 5296del4, c.5177_5180delGAAA and p.Arg1726_Lys1727?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357975(GAAA;GAAA)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41215363_41215366delTTTC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031225.8, RCV000048843.5, RCV000131829.3, RCV000167855.4,