rs80357609

minus

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

Make rs80357609(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091827

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357609
dbSNP (classic)	rs80357609
ClinGen	rs80357609
ebi	rs80357609
HLI	rs80357609
Exac	rs80357609
Gnomad	rs80357609
Varsome	rs80357609
LitVar	rs80357609
Map	rs80357609
PheGenI	rs80357609
Biobank	rs80357609
1000 genomes	rs80357609
hgdp	rs80357609
ensembl	rs80357609
geneview	rs80357609
scholar	rs80357609
google	rs80357609
pharmgkb	rs80357609
gwascentral	rs80357609
openSNP	rs80357609
23andMe	rs80357609
SNPshot	rs80357609
SNPdbe	rs80357609
MSV3d	rs80357609
GWAS Ctlg	rs80357609

Max Magnitude

6

rs80357609, also known as c.3695_3699GTAAA, 3819del5, c.3700_3704delGTAAA and p.Val1234_Asn1235?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357609(-;-)
Alt	rs80357609(-;-)
Reference	Rs80357609(GTAAA;GTAAA)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41243844_41243848delTTTAC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031123.8, RCV000048287.4, RCV000131816.3, RCV000235915.2, RCV000238864.1,