ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2097G>T (p.Gln699His) (rs80358486)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563839 SCV000661280 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113013 SCV000146004 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Color RCV000563839 SCV000906888 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000679158 SCV000293504 uncertain significance not provided 2015-11-16 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.2097G>T at the cDNA level, p.Gln699His (Q699H) at the protein level, and results in the change of a Glutamine to a Histidine (CAG>CAT). Using alternate nomenclature, this variant would be defined as BRCA2 2325G>T. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Gln699His 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 Histidine differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA2 Gln699His occurs at a position that is not conserved and is located in the region of Interaction with NPM1 (UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether BRCA2 Gln699His is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
PreventionGenetics RCV000679158 SCV000805665 uncertain significance not provided 2017-08-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000236961 SCV000600501 uncertain significance not specified 2017-05-05 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113013 SCV000189297 uncertain significance Breast-ovarian cancer, familial 2 2009-06-08 no assertion criteria provided clinical testing

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