ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.*14C>T

gnomAD frequency: 0.00009  dbSNP: 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 Diagnostics, LLC DBA Color Health 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 2023-08-15 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.*14C>T is 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. c.*14C>T has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (Pereira_2022). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 29922827, 35980532). Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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