ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5405A>G (p.Gln1802Arg) (rs80358764)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478720 SCV000566440 uncertain significance not provided 2015-04-29 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.5405A>G at the cDNA level, p.Gln1802Arg (Q1802R) at the protein level, and results in the change of a Glutamine to an Arginine (CAA>CGA). Using alternate nomenclature, this variant would be defined as BRCA2 5633A>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Gln1802Arg 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 Glutamine and Arginine differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA2 Gln1802Arg occurs at a position that is not conserved and is not located in a known functional domain (UniProt). 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 Gln1802Arg is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000575899 SCV000661328 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Sharing Clinical Reports Project (SCRP) RCV000083117 SCV000115191 uncertain significance Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000083117 SCV000146608 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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