ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6369A>C (p.Glu2123Asp) (rs1064793571)

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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 RCV000509671 SCV000608055 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000624984 SCV000744489 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000478478 SCV000566477 uncertain significance not provided 2015-05-03 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.6369A>C at the cDNA level, p.Glu2123Asp (E2123D) at the protein level, and results in the change of a Glutamic Acid to an Aspartic Acid (GAA>GAC). Using alternate nomenclature, this variant would be defined as BRCA2 6597A>C. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Glu2123Asp 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 Glutamic Acid and Aspartic Acid share similar properties, this is considered a conservative amino acid substitution. BRCA2 Glu2123Asp occurs at a position that is not conserved and is not located in a known functional domain (UniProt). 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 Glu2123Asp is pathogenic or benign. We consider it to be a variant of uncertain significance.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624984 SCV000743321 likely benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing

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