ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7771A>G (p.Asn2591Asp) (rs778060629)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562419 SCV000668727 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000486358 SCV000567224 uncertain significance not provided 2016-01-28 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7771A>G at the cDNA level, p.Asn2591Asp (N2591D) at the protein level, and results in the change of an Asparagine to an Aspartic Acid (AAT>GAT). Using alternate nomenclature, this variant would be defined as BRCA2 7999A>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Asn2591Asp 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 Asparagine and Aspartic Acid differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA2 Asn2591Asp occurs at a position that is not conserved and is located in the DNA binding domain (Borg 2010). 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 Asn2591Asp is pathogenic or benign. We consider it to be a variant of uncertain significance.

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