rs80357355

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	Normal
(A;T)	6	BRCA1 variant considered pathogenic for breast cancer

Make rs80357355(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093571

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357355
dbSNP (classic)	rs80357355
ClinGen	rs80357355
ebi	rs80357355
HLI	rs80357355
Exac	rs80357355
Gnomad	rs80357355
Varsome	rs80357355
LitVar	rs80357355
Map	rs80357355
PheGenI	rs80357355
Biobank	rs80357355
1000 genomes	rs80357355
hgdp	rs80357355
ensembl	rs80357355
geneview	rs80357355
scholar	rs80357355
google	rs80357355
pharmgkb	rs80357355
gwascentral	rs80357355
openSNP	rs80357355
23andMe	rs80357355
SNPshot	rs80357355
SNPdbe	rs80357355
MSV3d	rs80357355
GWAS Ctlg	rs80357355

Max Magnitude

6

rs80357355, also known as K654X, c.1960A>T and p.Lys654Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5010233

ClinVar
Risk	rs80357355(G;G) rs80357355(T;T)
Alt	rs80357355(G;G) rs80357355(T;T)
Reference	Rs80357355(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41245588T>A; NC_000017.10:g.41245588T>C
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000031017.6, RCV000047658.6, RCV000131895.3, RCV000203662.2, RCV000047657.2,