ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5634C>G (p.Asn1878Lys) (rs80358784)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164012 SCV000214617 likely benign Hereditary cancer-predisposing syndrome 2017-08-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000031564 SCV000146648 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000164012 SCV000683718 likely benign Hereditary cancer-predisposing syndrome 2015-11-24 criteria provided, single submitter clinical testing
Counsyl RCV000031564 SCV000488757 uncertain significance Breast-ovarian cancer, familial 2 2016-06-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168579 SCV000591980 uncertain significance not specified 2013-11-18 criteria provided, single submitter clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735567 SCV000863705 uncertain significance Breast and/or ovarian cancer 2013-07-19 no assertion criteria provided clinical testing
GeneDx RCV000168579 SCV000210615 likely benign not specified 2017-02-10 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.
Integrated Genetics/Laboratory Corporation of America RCV000168579 SCV000916942 uncertain significance not specified 2018-05-10 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.5634C>G (p.Asn1878Lys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.8e-05 in 274552 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast and Ovarian Cancer (1.8e-05 vs 7.50E-04), allowing no conclusion about variant significance. The variant, c.5634C>G, has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Borg 2010, Balia 2011, Lu 2012, Wong-Brown 2015). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Two studies examined functional consequences of the variant showed that this variant may be functionally significant based on homologous recombination-based assays (Balia 2011, Spugnesi 2013). Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and reported the variant with conflicting assessments (likely benign x4, uncertain significance x2). Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV000195372 SCV000072714 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000168579 SCV000600650 uncertain significance not specified 2017-07-14 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031564 SCV000054169 likely benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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