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rs276174914

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AACAGTTGT;AACAGTTGT) 0 common in clinvar
(AACAGTTGT;GATACTTCAG) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs276174914(GATACTTCAG;GATACTTCAG)
ReferenceGRCh38 38.1/142
Chromosome13
Position32332369
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174914
ebirs276174914
HLIrs276174914
Exacrs276174914
Varsomers276174914
Maprs276174914
PheGenIrs276174914
hapmaprs276174914
1000 genomesrs276174914
hgdprs276174914
ensemblrs276174914
gopubmedrs276174914
geneviewrs276174914
scholarrs276174914
googlers276174914
pharmgkbrs276174914
gwascentralrs276174914
openSNPrs276174914
23andMers276174914
23andMe allrs276174914
SNP Nexus

SNPshotrs276174914
SNPdbers276174914
MSV3drs276174914
GWAS Ctlgrs276174914
Max Magnitude6
rs276174914, also known as 1119del9ins10, c.891_899delinsGATACTTCAG and p.Glu297_Val300?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174914(GATACTTCAG;GATACTTCAG)
Alt rs276174914(GATACTTCAG;GATACTTCAG)
Reference rs276174914(AACAGTTGT;AACAGTTGT)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32906506_32906514delAACAGTTGTinsGATACTTCAG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000112859.1, RCV000160265.1, RCV000218535.1,