ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3071_3073del (p.Ile1024del) (rs754836679)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167322 SCV000218172 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Other data supporting pathogenic classification,Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient evidence
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000499486 SCV000591846 uncertain significance not specified criteria provided, single submitter clinical testing
Invitae RCV000530330 SCV000635263 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-05 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 11 of the BRCA2 mRNA (c.3071_3073delTTA). This leads to the deletion of 1 amino acid residue in the BRCA2 protein (p.Ile1024del) but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs754836679, ExAC 0.002%). This variant has not been reported in the literature in individuals with a BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 187582). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, this variant is a rare in-frame deletion with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000238825 SCV000296549 uncertain significance Breast-ovarian cancer, familial 2 2016-03-31 criteria provided, single submitter clinical testing

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