ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8774A>G (p.Gln2925Arg) (rs80359135)

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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 RCV000510072 SCV000607811 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000113999 SCV000147460 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000510072 SCV000906955 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000481564 SCV000566736 uncertain significance not provided 2016-03-29 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8774A>G at the cDNA level, p.Gln2925Arg (Q2925R) at the protein level, and results in the change of a Glutamine to an Arginine (CAG>CGG). Using alternate nomenclature, this variant would be defined as BRCA2 9002A>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Gln2925Arg 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 Glutamine and Arginine differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA2 Gln2925Arg occurs at a position that is conserved across species and is 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 information, it is unclear whether BRCA2 Gln2925Arg is pathogenic or benign. We consider it to be a variant of uncertain significance.

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