ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7751G>A (p.Gly2584Asp) (rs80359001)

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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 RCV000131991 SCV000187049 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Breast Cancer Information Core (BIC) (BRCA2) RCV000113811 SCV000147170 uncertain significance Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
GeneDx RCV000485049 SCV000566871 uncertain significance not provided 2015-06-11 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7751G>A at the cDNA level, p.Gly2584Asp (G2584D) at the protein level, and results in the change of a Glycine to an Aspartic Acid (GGT>GAT). Using alternate nomenclature, this variant would be defined as BRCA2 7979G>A. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Gly2584Asp was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. Since Glycine and Aspartic Acid differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Gly2584Asp occurs at a position that is conserved across species and is located in the DNA binding domain (Borg 2010). In silico analyses predict that this variant is probably damaging to protein structure and function, while a published computational model predicted this variant to be of uncertain significance (Karchin 2008). Based on currently available information, it is unclear whether BRCA2 Gly2584Asp is pathogenic or benign. We consider it to be a variant of uncertain significance.

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