ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1096T>G (p.Leu366Val) (rs587779357)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000074510 SCV000108595 likely benign not specified 2016-07-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000166352 SCV000217140 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
Invitae RCV000586794 SCV000254167 likely benign not provided 2018-09-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000074510 SCV000600462 uncertain significance not specified 2017-04-07 criteria provided, single submitter clinical testing
Color RCV000166352 SCV000683401 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586794 SCV000694507 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.1096T>G (p.Leu366Val) variant involves the alteration of a conserved nucleotide. 3/5 in silico tools predict a damaging outcome for this variant. This variant is not located in any commonly known domains (InterPro). 2/5 splice prediction tools predict that this variant may create a novel 3' splicing acceptor site. However, one study showed that aberrant splicing was not found in a patient who carries this variant (Thomassen_2011). This variant was found in 1/120676 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). This variant has been found in multiple HBOC patients without co-segregation evidence. Clinical diagnostic laboratories/reputable databases have provided conflicting interpretation of this variant ranging from likely benign (2) to VUS (3). Taken together, this variant is classified as Variant of uncertain significance (VUS) until additional information (i.e. functional and co-segregation studies) becomes available.
Mendelics RCV000077249 SCV001138987 likely benign Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077249 SCV000109046 uncertain significance Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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