ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.-15A>C (rs138705202)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000168528 SCV000210549 benign not specified 2014-07-01 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000168528 SCV000227005 likely benign not specified 2015-10-13 criteria provided, single submitter clinical testing
Invitae RCV000200285 SCV000252602 benign Hereditary breast and ovarian cancer syndrome 2015-08-25 criteria provided, single submitter clinical testing
Color Health, Inc RCV000579801 SCV000683384 likely benign Hereditary cancer-predisposing syndrome 2015-11-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282252 SCV000883522 likely benign none provided 2020-02-09 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031295 SCV000053900 benign Breast-ovarian cancer, familial 2 2009-09-24 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031295 SCV000145978 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353547 SCV000591650 uncertain significance Malignant tumor of breast no assertion criteria provided clinical testing The c.-15A>C variant has been previously reported in the literature in one study that looked at in-silico analyses of variants in the 5' untranslated region of the gene (Ozreti 2010). However, this information was not useful in determining the clinical significance of this variant. It is possible that this variant may influence the binding of transcription factors and expression or processing of the BRCA2 mRNA transcript. However, there is limited data to support this claim. It is listed in the dbSNP database (ID#: rs138705202) with a “global minor allele frequency" of 0.001 (1000 genomes), but was not validated. It is possible that this variant is common in a population from a geographic origin that has not been tested by our laboratory such that the full spectrum of benign variation has not yet been defined for this gene and increasing the likelihood that this variant may be benign. However, we cannot rule out that this variant may be implicated in the phenotype of this individual. In summary, the clinical significance of this variant cannot be determined with certainty at this time. Therefore this variant is a variant of unknown significance (VUS).

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