ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4216_4218del (p.Lys1406del) (rs758636052)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165913 SCV000216668 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Insufficient evidence
GeneDx RCV000222837 SCV000279471 uncertain significance not provided 2015-10-06 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in BRCA2 is denoted c.4216_4218delAAA at the cDNA level and p.Lys1406del (K1406del) at the protein level. Using alternate nomenclature, this variant would be described as BRCA2 4444_4446delAAA. The normal sequence, with the bases that are deleted in braces, is AAAT[AAA]GAAC. This deletion of a single Lysine residue occurs at a position that is not conserved and is within the region of interaction with POLH (UniProt). This variant has not, to our knowledge, been published in the literature as being 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 Lys1406del to be a variant of uncertain significance.
Counsyl RCV000662987 SCV000785973 uncertain significance Breast-ovarian cancer, familial 2 2018-01-24 criteria provided, single submitter clinical testing

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