rs80357505

minus

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

Make rs80357505(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094091

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357505
dbSNP (classic)	rs80357505
ClinGen	rs80357505
ebi	rs80357505
HLI	rs80357505
Exac	rs80357505
Gnomad	rs80357505
Varsome	rs80357505
LitVar	rs80357505
Map	rs80357505
PheGenI	rs80357505
Biobank	rs80357505
1000 genomes	rs80357505
hgdp	rs80357505
ensembl	rs80357505
geneview	rs80357505
scholar	rs80357505
google	rs80357505
pharmgkb	rs80357505
gwascentral	rs80357505
openSNP	rs80357505
23andMe	rs80357505
SNPshot	rs80357505
SNPdbe	rs80357505
MSV3d	rs80357505
GWAS Ctlg	rs80357505

Max Magnitude

6

rs80357505, also known as 1558insA, c.1439_1440insA and p.Asn480?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357505(A;A)
Alt	rs80357505(A;A)
Reference	Rs80357505(-;-)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41246109dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047474.3, RCV000083022.5, RCV000129465.2,