ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3085A>G (p.Met1029Val) (rs80358553)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000083096 SCV000146167 uncertain significance Breast-ovarian cancer, familial 2 2001-03-30 no assertion criteria provided clinical testing
GeneDx RCV000484779 SCV000566190 uncertain significance not provided 2015-04-04 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.3085A>G at the cDNA level, p.Met1029Val (M1029V) at the protein level, and results in the change of a Methionine to a Valine (ATG>GTG). Using alternate nomenclature, this variant would be defined as BRCA2 3313A>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Met1029Val 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 Methionine and Valine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Met1029Val occurs at a position that is not conserved across species and is located in the first BRC repeat region (UniProt). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether BRCA2 Met1029Val is a pathogenic variant or benign variant.
Sharing Clinical Reports Project (SCRP) RCV000083096 SCV000115170 uncertain significance Breast-ovarian cancer, familial 2 2011-03-18 no assertion criteria provided clinical testing

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