rs80357519

minus

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

Make rs80357519(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092695

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357519
dbSNP (classic)	rs80357519
ClinGen	rs80357519
ebi	rs80357519
HLI	rs80357519
Exac	rs80357519
Gnomad	rs80357519
Varsome	rs80357519
LitVar	rs80357519
Map	rs80357519
PheGenI	rs80357519
Biobank	rs80357519
1000 genomes	rs80357519
hgdp	rs80357519
ensembl	rs80357519
geneview	rs80357519
scholar	rs80357519
google	rs80357519
pharmgkb	rs80357519
gwascentral	rs80357519
openSNP	rs80357519
23andMe	rs80357519
SNPshot	rs80357519
SNPdbe	rs80357519
MSV3d	rs80357519
GWAS Ctlg	rs80357519

Max Magnitude

6

rs80357519, also known as 2954insT, c.2835_2836insT and p.Ser945_Ile946?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357519(T;T)
Alt	rs80357519(T;T)
Reference	Rs80357519(-;-)
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.41244713dupA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047986.2, RCV000111948.3, RCV000221882.1, RCV000484231.1,