rs80357714

minus

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

Make rs80357714(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094150

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357714
dbSNP (classic)	rs80357714
ClinGen	rs80357714
ebi	rs80357714
HLI	rs80357714
Exac	rs80357714
Gnomad	rs80357714
Varsome	rs80357714
LitVar	rs80357714
Map	rs80357714
PheGenI	rs80357714
Biobank	rs80357714
1000 genomes	rs80357714
hgdp	rs80357714
ensembl	rs80357714
geneview	rs80357714
scholar	rs80357714
google	rs80357714
pharmgkb	rs80357714
gwascentral	rs80357714
openSNP	rs80357714
23andMe	rs80357714
SNPshot	rs80357714
SNPdbe	rs80357714
MSV3d	rs80357714
GWAS Ctlg	rs80357714

Max Magnitude

6

rs80357714, also known as 1499insA, c.1380_1381insA and p.Ile460_Phe461?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357714(A;A)
Alt	rs80357714(A;A)
Reference	Rs80357714(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Neoplasm of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Neoplasm of breast
Reversed	1
HGVS	NC_000017.10:g.41246168dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000030988.7, RCV000047447.3, RCV000214909.1, RCV000413703.1,