ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.794-11T>C (rs81002822)

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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) RCV000112830 SCV000145741 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000580896 SCV000683918 likely benign Hereditary cancer-predisposing syndrome 2017-03-16 criteria provided, single submitter clinical testing
Counsyl RCV000112830 SCV000785118 likely benign Breast-ovarian cancer, familial 2 2017-05-03 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112830 SCV000744393 likely benign Breast-ovarian cancer, familial 2 2017-05-31 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000504042 SCV000591714 likely benign not specified 2014-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000504042 SCV000730712 benign not specified 2015-06-25 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112830 SCV000743250 likely benign Breast-ovarian cancer, familial 2 2015-06-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000504042 SCV000917051 likely benign not specified 2018-11-26 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.794-11T>C 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. 5/5 computational tools predict no significant impact on normal splicing, and multiple functional studies support these predictions (Brandao_2011, Houdayer_2012). The variant allele was found at a frequency of 2.9e-05 in 238184 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.794-11T>C has been reported in the literature in an individual affected with Hereditary Breast and Ovarian Cancer (Brandao_2011). These report(s) do 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.2649insGGCA, p.Thr884AlafsX20; BRCA1 c.5106delA, p.Lys1702AsnfsX4; BRCA1 c.5266dupC, p.Gln1756fsX74), providing supporting evidence for a benign role. Six ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as likely benign/benign. Based on the evidence outlined above, the variant was classified as likely benign.
Invitae RCV000045349 SCV000073362 benign Hereditary breast and ovarian cancer syndrome 2017-08-03 criteria provided, single submitter clinical testing

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