ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7805+13A>G (rs149769332)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000579869 SCV000683908 likely benign Hereditary cancer-predisposing syndrome 2016-06-23 criteria provided, single submitter clinical testing
Counsyl RCV000662386 SCV000784790 likely benign Breast-ovarian cancer, familial 2 2017-01-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000160247 SCV000592142 uncertain significance not specified 2014-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000160247 SCV000210662 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.
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology RCV000199590 SCV000916368 benign Hereditary breast and ovarian cancer syndrome 2019-03-01 no assertion criteria provided research
Integrated Genetics/Laboratory Corporation of America RCV000160247 SCV000695103 likely benign not specified 2018-03-22 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.7805+13A>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. This frequency is not significantly higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast and Ovarian Cancer (6.5e-05 vs 7.50e-04), allowing no conclusion about variant significance. c.7805+13A>G has been reported in the literature in one family affected with Hereditary Breast and Ovarian Cancer (Azzollini_2016). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Co-occurrences with other pathogenic variant(s) have been reported (BRCA1 c.3748G>T, p.Glu1250X; BRCA1 c.4986+6T>C), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (2 likely benign and 1 VUS). Based on the evidence outlined above, the variant was classified as likely benign.
Invitae RCV000199590 SCV000254213 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-05 criteria provided, single submitter clinical testing
Mendelics RCV000199590 SCV000838862 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing

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