ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8775G>C (p.Gln2925His) (rs80359136)

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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 RCV000130540 SCV000185409 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000766542 SCV000279414 uncertain significance not provided 2016-01-15 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8775G>C at the cDNA level, p.Gln2925His (Q2925H) at the protein level, and results in the change of a Glutamine to a Histidine (CAG>CAC). Using alternate nomenclature, this variant would be defined as BRCA2 9003G>C. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Gln2925His 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 Histidine differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA2 Gln2925His occurs at a position that is conserved across species and is located within the DNA binding domain (Borg 2010). 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 Gln2925His is pathogenic or benign. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000766542 SCV000600825 uncertain significance not provided 2018-12-13 criteria provided, single submitter clinical testing
Color RCV000130540 SCV000689156 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-03 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077452 SCV000109250 uncertain significance Breast-ovarian cancer, familial 2 2012-05-21 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077452 SCV000147461 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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