rs80359604

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;GT)	6	BRCA2 variant considered pathogenic for breast cancer
(GT;GT)	0	common/normal

Make rs80359604(-;-)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32329469

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359604
dbSNP (classic)	rs80359604
ClinGen	rs80359604
ebi	rs80359604
HLI	rs80359604
Exac	rs80359604
Gnomad	rs80359604
Varsome	rs80359604
LitVar	rs80359604
Map	rs80359604
PheGenI	rs80359604
Biobank	rs80359604
1000 genomes	rs80359604
hgdp	rs80359604
ensembl	rs80359604
geneview	rs80359604
scholar	rs80359604
google	rs80359604
pharmgkb	rs80359604
gwascentral	rs80359604
openSNP	rs80359604
23andMe	rs80359604
SNPshot	rs80359604
SNPdbe	rs80359604
MSV3d	rs80359604
GWAS Ctlg	rs80359604

Merged from

Rs768580992

Max Magnitude

6

rs80359604, also known as 886delGT, c.658_659delGT and p.Val220Ilefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.rs80359604, also known as 886delGT and Val220Ilefs, is a mutation in the BRCA2 gene on chromosome 13.

A good starting place for information about this SNP is OMIM.

Although there is some conflicting evidence, the deletion form of this SNP has been reported to be associated with several different (generally recessively inherited) conditions, including:

• Breast-ovarian cancer, familial 2
• Fanconi anemia, complementation group D1
• Medulloblastoma
• Wilms tumor 1
• Glioma susceptibility 3
• Pre-B-cell acute lymphoblastic leukemia
• BRCA1 and BRCA2 Hereditary Breast cancer and Ovarian cancer

23andMe name: i5009241

ClinVar
Risk	rs80359604(-;-) rs80359604(TG;TG)
Alt	rs80359604(-;-) rs80359604(TG;TG)
Reference	Rs80359604(GT;GT)
Significance	Other
Disease	Fanconi anemia Wilms tumor 1 Glioma susceptibility 3 Medulloblastoma Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Fanconi anemia, complementation group D1 Wilms tumor 1 Glioma susceptibility 3 Medulloblastoma Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32903606_32903607delGT
CLNSRC	Breast Cancer Information Core (BRCA2) OMIM Allelic Variant
CLNACC	RCV000009929.4, RCV000009930.4, RCV000009931.4, RCV000009932.6, RCV000031637.8, RCV000044988.5, RCV000074548.8, RCV000131858.4, RCV000210073.1, RCV000466729.1,