ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7805+8A>G

gnomAD frequency: 0.00001  dbSNP: rs81002847
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001088875 SCV000073330 likely benign Hereditary breast ovarian cancer syndrome 2025-01-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000581094 SCV000683910 likely benign Hereditary cancer-predisposing syndrome 2015-09-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758952 SCV000887925 likely benign not provided 2022-11-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000507747 SCV001360851 uncertain significance not specified 2023-04-07 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.7805+8A>G 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 1.2e-05 in 251190 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.7805+8A>G has been reported in the literature as a variant of uncertain significance in at least one individual affected with Hereditary Breast and Ovarian Cancer (Lu_2012). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian 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=1)/likely benign (n=3). Based on the evidence outlined above, the variant was classified as uncertain significance.
GeneDx RCV000758952 SCV001834045 benign not provided 2015-06-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21965345, 22476429)
Sharing Clinical Reports Project (SCRP) RCV000077413 SCV000109211 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2010-07-22 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077413 SCV000147188 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 no assertion criteria provided clinical testing

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