ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8633-16C>G (rs81002818)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000465817 SCV000541055 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113974 SCV000147420 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000580437 SCV000683989 benign Hereditary cancer-predisposing syndrome 2015-12-14 criteria provided, single submitter clinical testing
Counsyl RCV000113974 SCV000220955 likely benign Breast-ovarian cancer, familial 2 2014-12-13 criteria provided, single submitter literature only
GeneDx RCV000212280 SCV000167413 benign not specified 2014-04-14 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 RCV000212280 SCV000918984 likely benign not specified 2017-12-21 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.8633-16C>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing, which multiple functional studies support these predictions. This variant was found in 29/276544 control chromosomes at a frequency of 0.0001049, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The variant of interest has been reported in multiple affected individuals via publications, although with limited information (ie, lack of co-occurrence and cosegregation data). However, a reputable database cites the variant to co-occur with two different pathogenic BRCA1 variants, c.5028_5031delAACT (p.Leu1676fs) and c.2722G>T (p.Glu908X). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as likely benign.
Invitae RCV000045581 SCV000073594 benign Hereditary breast and ovarian cancer syndrome 2017-12-18 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113974 SCV000297571 benign Breast-ovarian cancer, familial 2 2011-02-24 no assertion criteria provided clinical testing

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