ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9690A>T (p.Leu3230Phe) (rs80359238)

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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 RCV000131275 SCV000186243 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000114154 SCV000147699 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000131275 SCV000684085 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-31 criteria provided, single submitter clinical testing
Counsyl RCV000114154 SCV000785304 uncertain significance Breast-ovarian cancer, familial 2 2017-07-06 criteria provided, single submitter clinical testing
Invitae RCV000045886 SCV000073899 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-11-07 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 3230 of the BRCA2 protein (p.Leu3230Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 52891). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508027 SCV000600873 uncertain significance not specified 2017-01-21 criteria provided, single submitter clinical testing

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