ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9257-8C>T (rs11571819)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088131 SCV000253058 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759690 SCV000889183 likely benign not provided 2018-03-23 criteria provided, single submitter clinical testing
Color RCV000773110 SCV000906591 likely benign Hereditary cancer-predisposing syndrome 2016-05-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780036 SCV000917050 likely benign not specified 2019-06-03 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.9257-8C>T alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 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 1.6e-05 in 244366 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.9257-8C>T has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Hansen_2009, Lu_2012). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. This variant was reported to co-occur within an internal sample that carried two additional pathogenic variants, CHEK2 c.1100delC and RAD51C c.397C>T (p.Gln133X), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Mendelics RCV000077038 SCV001139252 likely benign Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077038 SCV000108835 uncertain significance Breast-ovarian cancer, familial 2 2012-02-10 no assertion criteria provided clinical testing

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