ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8487+8G>A (rs81002838)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000031746 SCV000147381 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Color RCV000581089 SCV000683970 likely benign Hereditary cancer-predisposing syndrome 2016-07-25 criteria provided, single submitter clinical testing
Counsyl RCV000031746 SCV000220472 likely benign Breast-ovarian cancer, familial 2 2014-07-02 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000045537 SCV000592197 uncertain significance not specified 2014-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000045537 SCV000210670 benign not specified 2014-08-19 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 RCV000587358 SCV000695157 uncertain significance not provided 2017-08-09 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.8487+8G>A variant involves the alteration of a non-conserved intronic nucleotide and 5/5 splice prediction tools predict no significant impact on normal splicing, which is supported by a functional study, Whiley_2011. This variant was found in 13/276832 control chromosomes, predominantly observed in the African cohort at a frequency of 0.000458 (11/24006), however, these occurrences do not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). Multiple publications have cited the variant in affected individuals, although with limited information (ie, co-occurrence and/or cosegregation data). Multiple clinical diagnostic laboratories/reputable databases have classified the variant with conflicting classifications, "uncertain significance," "likely benign," or "benign." Taken together, this variant is classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000195336 SCV000073550 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000045537 SCV000600808 likely benign not specified 2017-01-13 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031746 SCV000054353 likely benign Breast-ovarian cancer, familial 2 2011-07-15 no assertion criteria provided clinical testing

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