rs80357868

minus

Geno	Mag	Summary
(-;GTCT)	6	BRCA1 variant considered pathogenic for breast cancer
(GTCT;GTCT)	0	Normal
(TGTC;TGTC)	0	common/normal

Make rs80357868(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091772

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357868
dbSNP (classic)	rs80357868
ClinGen	rs80357868
ebi	rs80357868
HLI	rs80357868
Exac	rs80357868
Gnomad	rs80357868
Varsome	rs80357868
LitVar	rs80357868
Map	rs80357868
PheGenI	rs80357868
Biobank	rs80357868
1000 genomes	rs80357868
hgdp	rs80357868
ensembl	rs80357868
geneview	rs80357868
scholar	rs80357868
google	rs80357868
pharmgkb	rs80357868
gwascentral	rs80357868
openSNP	rs80357868
23andMe	rs80357868
SNPshot	rs80357868
SNPdbe	rs80357868
MSV3d	rs80357868
GWAS Ctlg	rs80357868

Merged from

Rs80357963

Max Magnitude

6

rs80357868, also known as 3875del4, c.3756_3759delGTCT and p.Leu1252_Ser1253?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	Rs80357868(TGTC;TGTC) rs80357868(-;-)
Alt	Rs80357868(TGTC;TGTC) rs80357868(-;-)
Reference	Rs80357868(GTCT;GTCT)
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.41243789_41243792delAGAC
CLNSRC	Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC	RCV000019242.16, RCV000048314.6, RCV000131810.4, RCV000167859.5, RCV000239051.2,