ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.*14C>T (rs373436334)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444840 SCV000512407 benign not specified 2015-05-29 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000444840 SCV000602828 likely benign not specified 2016-11-17 criteria provided, single submitter clinical testing
Color Health, Inc RCV000579951 SCV000683387 likely benign Hereditary cancer-predisposing syndrome 2016-04-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000444840 SCV000694484 likely benign not specified 2020-02-17 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.*14C>T alters a non-conserved nucleotide located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of 3e-05 in 267880 control chromosomes to include 2 occurrences in women of African American ancestry older than age 70 who have never had cancer as reported in the FLOSSIES database. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.*14C>T in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign (n=1)/likely benign(n=2). We have not ascertained any evidence supporting a pathogenic outcome in over 4 years of its evaluation at our laboratory. Based on the evidence outlined above, the variant was re-classified as likely benign to reflect the consensus interpretation in the field.

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