ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7811T>C (p.Leu2604Pro) (rs431825357)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165518 SCV000216250 uncertain significance Hereditary cancer-predisposing syndrome 2014-08-11 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,Structural Evidence
GeneDx RCV000755223 SCV000321484 uncertain significance not provided 2016-05-13 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7811T>C at the cDNA level, p.Leu2604Pro (L2604P) at the protein level, and results in the change of a Leucine to a Proline (CTG>CCG). Using alternate nomenclature, this variant would be defined as BRCA2 8039T>C. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Leu2604Pro 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 Leucine and Proline differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA2 Leu2604Pro occurs at a position that is conserved across species and is located in the DNA binding domain (Yang 2002). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether BRCA2 Leu2604Pro is pathogenic or benign. We consider it to be a variant of uncertain significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755223 SCV000602847 uncertain significance not provided 2017-08-03 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082980 SCV000115054 uncertain significance Breast-ovarian cancer, familial 2 2013-03-11 no assertion criteria provided clinical testing

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