ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8059G>T (p.Val2687Phe) (rs80359044)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571107 SCV000668620 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000113863 SCV000147261 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
GeneDx RCV000212269 SCV000210460 uncertain significance not provided 2013-12-10 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8059G>T at the cDNA level, p.Val2687Phe (V2687F) at the protein level, and results in the change of a Valine to a Phenylalanine (GTT>TTT). This variant has been reported once in the literature to our knowledge and predicted to be deleterious based on a protein likelihood model (Karchin 2008). BRCA2 Val2687Phe 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. This variant is a semi-conservative amino acid substitution, altering a position that is well conserved throughout evolution and only accepts the conservative change Val>Ile. This variant is located in the DNA binding domain (UniProt). Multiple in silico algorithms predict that this variant may be damaging to protein structure and function. Additional information, such as from functional or case-control studies, may help to clarify the significance of this variant. Therefore, based on currently available information, we consider BRCA2 Val2687Phe to be a variant of uncertain significance.

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