ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=) (rs143999963)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231287 SCV000283329 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565818 SCV000665951 likely benign Hereditary cancer-predisposing syndrome 2015-11-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590364 SCV000695119 likely benign not specified 2020-10-08 criteria provided, single submitter clinical testing
Counsyl RCV000662966 SCV000785944 uncertain significance Breast-ovarian cancer, familial 2 2018-01-18 criteria provided, single submitter clinical testing
Color Health, Inc RCV000565818 SCV000903268 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-16 criteria provided, single submitter clinical testing This synonymous variant does not change the amino acid sequence of the BRCA2 protein. A minigene splicing assay suggests that this variant caused a partial splicing defect and resulted in exon 18 skipping in some RNA transcripts (PMID: 28339459, 31191615). The aberrant RNA transcript is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/250812 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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