ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6029T>G (p.Val2010Gly) (rs80358839)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129746 SCV000184552 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
GeneDx RCV000212246 SCV000210380 uncertain significance not provided 2014-09-12 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.6029T>G at the cDNA level, p.Val2010Gly (V2010G) at the protein level, and results in the change of a Valine to a Glycine (GTC>GGC). This variant has been observed in at least two families with a history of breast and/or ovarian cancer and in one healthy control (Inoue 1997, Kurian 2008). BRCA2 Val2010Gly 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 Valine and Glycine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Val2010Gly occurs at a position that is variable across species and is located in the 7th BRC repeat region (Roy 2012). 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 Val2010Gly is pathogenic or benign. We consider it to be a variant of uncertain significance.
Counsyl RCV000077367 SCV000488374 uncertain significance Breast-ovarian cancer, familial 2 2016-03-10 criteria provided, single submitter clinical testing
Mendelics RCV000709322 SCV000838829 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077367 SCV000109164 uncertain significance Breast-ovarian cancer, familial 2 2012-08-24 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077367 SCV000146753 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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