ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.67+4T>C

gnomAD frequency: 0.00001  dbSNP: rs373546450
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130680 SCV000185567 likely benign Hereditary cancer-predisposing syndrome 2019-10-15 criteria provided, single submitter clinical testing In silico models in agreement (benign);Intronic alteration with no splicing impact by rt-pcr analysis or other splicing assay
Michigan Medical Genetics Laboratories,University of Michigan RCV000031643 SCV000267725 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2016-04-21 criteria provided, single submitter clinical testing
Invitae RCV000228347 SCV000283298 uncertain significance Hereditary breast ovarian cancer syndrome 2021-09-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000130680 SCV000688993 uncertain significance Hereditary cancer-predisposing syndrome 2021-02-03 criteria provided, single submitter clinical testing This variant causes a T to C nucleotide substitution at the +4 position of intron 2 of the BRCA2 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/245274 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000031643 SCV000743234 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2017-07-28 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000031643 SCV000744377 benign Breast-ovarian cancer, familial, susceptibility to, 2 2015-09-21 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031643 SCV000054250 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2008-08-25 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723595 SCV001957282 likely benign not provided no assertion criteria provided clinical testing

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