ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.562G>A (p.Val188Met) (rs1555281063)

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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 RCV000509982 SCV000608271 uncertain significance Hereditary cancer-predisposing syndrome 2015-12-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761055 SCV000890970 uncertain significance Retinoblastoma 2016-06-10 no assertion criteria provided clinical testing
Color RCV000509982 SCV000688934 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588593 SCV000694860 uncertain significance not provided 2017-01-23 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.562G>A (p.Val188Met) variant involves the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is absent in 121394 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000527957 SCV000635460 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-23 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 188 of the BRCA2 protein (p.Val188Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Mendelics RCV000527957 SCV000838737 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing

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