ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.632-13T>G (rs775947267)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083428 SCV000283288 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000588227 SCV000293725 uncertain significance not provided 2015-12-21 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.632-13T>G or IVS7-13T>G and consists of a T>G nucleotide substitution at the -13 position of intron 7 of the BRCA2 gene. Multiple in silico models predict this variant to weaken the nearby natural acceptor site, and to possibly cause abnormal gene splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 c.632-13T>G was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The thymine (T) nucleotide that is altered is conserved in mammals. Based on currently available information, it is unclear whether BRCA2 c.632-13T>G is pathogenic or benign. We consider it to be a variant of uncertain significance.
Integrated Genetics/Laboratory Corporation of America RCV000588227 SCV000694963 uncertain significance not provided 2016-04-22 criteria provided, single submitter clinical testing Variant summary: The c.632-13T>G variant affects a non-conserved intronic nucleotide. One in-silico tool predicts damaging outcome for this variant. 5/5 splice-tools in Alamut predict that this variant does not affect normal splicing. This variant is not found in 90320 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Considering all evidence, the variant was classified as a VUS-possibly benign until more information becomes available.
Counsyl RCV000663299 SCV000786551 likely benign Breast-ovarian cancer, familial 2 2018-05-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000588227 SCV000805738 likely benign not provided 2017-08-28 criteria provided, single submitter clinical testing
Color RCV001186865 SCV001353448 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-11 criteria provided, single submitter clinical testing

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