rs80357724

minus

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

Make rs80357724(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094732

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357724
dbSNP (classic)	rs80357724
ClinGen	rs80357724
ebi	rs80357724
HLI	rs80357724
Exac	rs80357724
Gnomad	rs80357724
Varsome	rs80357724
LitVar	rs80357724
Map	rs80357724
PheGenI	rs80357724
Biobank	rs80357724
1000 genomes	rs80357724
hgdp	rs80357724
ensembl	rs80357724
geneview	rs80357724
scholar	rs80357724
google	rs80357724
pharmgkb	rs80357724
gwascentral	rs80357724
openSNP	rs80357724
23andMe	rs80357724
SNPshot	rs80357724
SNPdbe	rs80357724
MSV3d	rs80357724
GWAS Ctlg	rs80357724

Merged from

Rs80357789

Max Magnitude

6

rs80357724, also known as c.787+12del, c.787+10dup, c.798_799del, 917delTT, c.798_799delTT and p.Val266_Ser267ValLysfs, all of which are variants in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357724(-;-)
Alt	rs80357724(-;-)
Reference	Rs80357724(TT;TT)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41246749_41246750delAA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031279.9, RCV000049141.5, RCV000131867.3, RCV000167858.2,