ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.316+12A>G (rs186419778)

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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000124003 SCV000602813 benign not specified 2016-11-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV000475878 SCV000541068 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Color RCV000580994 SCV000683529 likely benign Hereditary cancer-predisposing syndrome 2015-04-27 criteria provided, single submitter clinical testing
Counsyl RCV000662421 SCV000784870 likely benign Breast-ovarian cancer, familial 2 2017-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000124003 SCV000167403 benign not specified 2014-05-15 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 RCV000206448 SCV000494418 benign Hereditary breast and ovarian cancer syndrome 2015-11-16 criteria provided, single submitter clinical testing Variant Summary: This c.316+12A>G variant in BRCA2 gene affects a non-conserved nucleotide resulting in intronic change at a position not widely known to affect normal splicing. 4/5 in silico tools via Alamut predict that this variant does not affect normal splicing. The variant of interest has been observed in control population from ExAC at an allele frequency of 24/105900 (0.02%), predominantly in Latino cohort at a frequency of 22/9822 (0.22%). This frequency in Latino cohort significantly exceeds the maximum expected allele frequency for a BRCA2 pathogenic variant (0.075%), suggesting the variant to be an ethnic-specific polymorphism. The variant of interest reportedly has been identified in an affected individual with limited information (no co-occurrence or co-segregation information provided). In an internal sample, the variant has been observed in co-occurrence with pathogenic variant, c.1236_1237dupAT in BRCA1 gene, strongly supporting for a benign outcome. Furthermore, a reputable diagnostic laboratory classifies the variant as "benign." Therefore, taken all together, this variant has been classified as benign.
Invitae RCV000206448 SCV000260691 benign Hereditary breast and ovarian cancer syndrome 2018-01-24 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679167 SCV000805686 likely benign not provided 2017-10-24 criteria provided, single submitter 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.