ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5025_5027TAG[1] (p.Ser1676del) (rs431825326)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509743 SCV000608021 uncertain significance Hereditary cancer-predisposing syndrome 2016-05-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000509743 SCV000906099 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-25 criteria provided, single submitter clinical testing
GeneDx RCV000758903 SCV000566515 uncertain significance not provided 2015-05-04 criteria provided, single submitter clinical testing This deletion of 3 nucleotides in BRCA2 is denoted c.5028_5030delTAG at the cDNA level and p.S1676del at the protein level. The normal sequence, with the bases that are deleted in braces, is GTAG[TAG]AAAAAC. Using alternate nomenclature, this variant would be definted as BRCA2 c.5256_5258delTAG. This in frame deletion of a single Serine residue occurs at a position that is not conserved across species and is located within the BRC repeat domain and the region of interaction with POLH (Roy 2012, UniProt). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRCA2 S1676del to be a variant of uncertain significance.
Invitae RCV000637360 SCV000758815 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-08-20 criteria provided, single submitter clinical testing This variant, c.5028_5030delTAG, results in the deletion of 1 amino acid of the BRCA2 protein (p.Ser1676del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs763123300, ExAC 0.01%). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 96814). 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, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758903 SCV000887834 uncertain significance not provided 2018-01-11 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082935 SCV000115009 uncertain significance Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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