rs80357772

minus

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

Make rs80357772(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094549

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357772
dbSNP (old)	rs80357772
ClinGen	rs80357772
ebi	rs80357772
HLI	rs80357772
Exac	rs80357772
Varsome	rs80357772
Map	rs80357772
PheGenI	rs80357772
Biobank	rs80357772
1000 genomes	rs80357772
hgdp	rs80357772
ensembl	rs80357772
gopubmed	rs80357772
geneview	rs80357772
scholar	rs80357772
google	rs80357772
pharmgkb	rs80357772
gwascentral	rs80357772
openSNP	rs80357772
23andMe	rs80357772
23andMe all	rs80357772
SNP Nexus
SNPshot	rs80357772
SNPdbe	rs80357772
MSV3d	rs80357772
GWAS Ctlg	rs80357772

Max Magnitude

6

rs80357772, also known as 1100delAT, c.981_982delAT and p.Thr327_Cys328ThrTerfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357772(-;-)
Alt	rs80357772(-;-)
Reference	Rs80357772(AT;AT)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome Neoplasm of breast
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Neoplasm of breast
Reversed	1
HGVS	NC_000017.10:g.41246566_41246567delAT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000049211.3, RCV000077636.5, RCV000162892.2, RCV000240695.1,