ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5406A>C (p.Gln1802His) (rs139302211)

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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 RCV000165152 SCV000215863 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000165152 SCV000683703 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-11 criteria provided, single submitter clinical testing
GeneDx RCV000766624 SCV000210351 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.5406A>C at the cDNA level, p.Gln1802His (Q1802H) at the protein level, and results in the change of a Glutamine to a Histidine (CAA>CAC). Using alternate nomenclature, this variant would be defined as BRCA2 5634A>C. This variant has been observed in at least one individual with breast cancer (Lu 2015). BRCA2 Gln1802His was not observed at a significant allele frequency in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Glutamine and Histidine differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA2 Gln1802His occurs at a position that is not conserved and is located in the RAD51 binding domain (Roy 2012). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether BRCA2 Gln1802His is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000160087 SCV000600640 uncertain significance not specified 2016-11-28 criteria provided, single submitter clinical testing

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