rs80359874

minus

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

Make rs80359874(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094317

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80359874
dbSNP (classic)	rs80359874
ClinGen	rs80359874
ebi	rs80359874
HLI	rs80359874
Exac	rs80359874
Gnomad	rs80359874
Varsome	rs80359874
LitVar	rs80359874
Map	rs80359874
PheGenI	rs80359874
Biobank	rs80359874
1000 genomes	rs80359874
hgdp	rs80359874
ensembl	rs80359874
geneview	rs80359874
scholar	rs80359874
google	rs80359874
pharmgkb	rs80359874
gwascentral	rs80359874
openSNP	rs80359874
23andMe	rs80359874
SNPshot	rs80359874
SNPdbe	rs80359874
MSV3d	rs80359874
GWAS Ctlg	rs80359874

Max Magnitude

6

rs80359874, also known as 1294del40, c.1175_1214del and p.Leu392_Ser405?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359874(-;-)
Alt	rs80359874(-;-)
Reference	Rs80359874(TGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATC;TGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATC)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified
Reversed	1
HGVS	NC_000017.10:g.41246334_41246373del40
CLNSRC	Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC	RCV000019234.15, RCV000047372.6, RCV000131965.3, RCV000159899.3, RCV000238898.1,