ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8953+16C>T

gnomAD frequency: 0.00007  dbSNP: rs81002892
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082348 SCV000073679 benign Hereditary breast ovarian cancer syndrome 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000160254 SCV000210677 benign not specified 2014-09-18 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.
Counsyl RCV000114020 SCV000221113 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2015-02-03 criteria provided, single submitter literature only
Color Diagnostics, LLC DBA Color Health RCV000580470 SCV000684009 benign Hereditary cancer-predisposing syndrome 2016-08-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000160254 SCV000695195 likely benign not specified 2022-12-15 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.8953+16C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 6.1e-05 in 244558 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast And Ovarian Cancer Syndrome (6.1e-05 vs 0.00075), allowing no conclusion about variant significance. c.8953+16C>T has been reported in the literature without convincing association with Hereditary Breast and Ovatian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign (n=2) and likely benign (n=2). Based on the evidence outlined above, the variant was classified as likely benign.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000160254 SCV002551840 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000114020 SCV000147496 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 1998-11-30 no assertion criteria provided clinical testing
BRCAlab, Lund University RCV000114020 SCV004243845 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2020-03-02 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.