ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8630A>G (p.Glu2877Gly) (rs1064794960)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486194 SCV000570292 uncertain significance not provided 2016-05-10 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8630A>G at the cDNA level, p.Glu2877Gly (E2877G) at the protein level, and results in the change of a Glutamic Acid to a Glycine (GAA>GGA). Using alternate nomenclature, this variant would be defined as BRCA2 8858A>G. This variant was observed in at least one individual undergoing testing for the BRCA1 and BRCA2 genes (Tarabeux 2014). BRCA2 Glu2877Gly was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Glutamic Acid and Glycine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Glu2877Gly occurs at a position where amino acids with properties similar to Glutamic Acid are tolerated across species and is located within 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 evidence, it is unclear whether BRCA2 Glu2877Gly is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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