ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9934A>G (p.Ile3312Val) (rs80359254)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573263 SCV000666007 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000031848 SCV000145734 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Color RCV000573263 SCV000911239 likely benign Hereditary cancer-predisposing syndrome 2016-10-17 criteria provided, single submitter clinical testing
Counsyl RCV000031848 SCV000488219 uncertain significance Breast-ovarian cancer, familial 2 2016-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000482595 SCV000572910 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.9934A>G at the cDNA level, p.Ile3312Val (I3312V) at the protein level, and results in the change of an Isoleucine to a Valine (ATA>GTA). Using alternate nomenclature, this variant would be defined as/ has been previously published as BRCA2 10162A>G. This variant was observed in at least two individuals with a personal and/or family history of breast and/or ovarian cancer (Kurian 2008, Park 2016). BRCA2 Ile3312Val was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Isoleucine and Valine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Ile3312Val occurs at a position that is not conserved and is located in the NLS2 domain (Borg 2010). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether BRCA2 Ile3312Val is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Sharing Clinical Reports Project (SCRP) RCV000031848 SCV000054456 uncertain significance Breast-ovarian cancer, familial 2 2007-01-24 no assertion criteria provided clinical testing

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