ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3499A>G (p.Ile1167Val) (rs276174834)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000113185 SCV000146244 uncertain significance Breast-ovarian cancer, familial 2 2009-06-25 no assertion criteria provided clinical testing
GeneDx RCV000212230 SCV000210317 uncertain significance not provided 2015-04-02 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.3499A>G at the cDNA level, p.Ile1167Val (I1167V) at the protein level, and results in the change of an Isoleucine to a Valine (ATA>GTA). This variant, also defined as BRCA2 3727A>G by alternate nomenclature, was observed in an Italian breast cancer patient; however this patient was also found to carry a pathogenic BRCA1 variant (Vietri 2012). BRCA2 Ile1167Val was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating 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 Ile1167Val occurs at a position that is highly variable across species and is not located in a known functional domain. In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether BRCA2 Ile1167Val is pathogenic or benign. We consider it to be a variant of uncertain significance.

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