ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6848C>A (p.Pro2283His) (rs80358910)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168592 SCV000073093 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-07-15 criteria provided, single submitter clinical testing This sequence change replaces proline with histidine at codon 2283 of the BRCA2 protein (p.Pro2283His). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and histidine. This variant is present in population databases (rs80358910, ExAC 0.02%). This variant has been reported in two individuals affected with breast and/or ovarian cancer (PMID: 24549055). ClinVar contains an entry for this variant (Variation ID: 52214). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000130966 SCV000185881 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758941 SCV000887899 uncertain significance not provided 2018-06-20 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113669 SCV000146964 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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