ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.-9T>C (rs276174802)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000031298 SCV000145989 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000584062 SCV000688683 likely benign Hereditary cancer-predisposing syndrome 2015-07-16 criteria provided, single submitter clinical testing
Counsyl RCV000031298 SCV000785751 uncertain significance Breast-ovarian cancer, familial 2 2017-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000425748 SCV000512327 likely benign not specified 2017-06-02 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 RCV000587310 SCV000695286 uncertain significance not provided 2016-03-28 criteria provided, single submitter clinical testing Variant Summary: The c.-9T>C variant involves the alteration of a non-conserved nucleotide located in the 5'-UTR of BRCA2. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.0008% which does not exceed the maximal expected allele frequency for a pathogenic variant in BRCA2 (0.075%). The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. One publication predicted the variant to not disturb secondary structure of the BRCA2 protein, suggesting a benign role of the variant, although functional studies have not confirmed this result. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000168322 SCV000219009 uncertain significance Hereditary breast and ovarian cancer syndrome 2014-12-12 criteria provided, single submitter clinical testing This sequence change falls in the 5' UTR of the BRCA2 gene. It does not change the encoded amino acid sequence of the BRCA2 protein but may affect protein translation. This sequence change has been reported in the literature and is not present in population databases. This sequence change has been reported in affected patients in the Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (RCV000031298). In summary, this is a rare sequence change that has been reported in affected patients. Whether it affects BRCA2 function or segregates with disease remains unknown. For these reasons, this change has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000425748 SCV000600887 likely benign not specified 2017-04-25 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031298 SCV000053903 likely benign Breast-ovarian cancer, familial 2 2011-12-01 no assertion criteria provided clinical testing

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