ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5728_5730del (p.Asn1910del) (rs28897736)

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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 RCV000214058 SCV000273638 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000113472 SCV000146681 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
GeneDx RCV000235142 SCV000210769 uncertain significance not provided 2016-11-29 criteria provided, single submitter clinical testing This in-frame deletion of three nucleotides in BRCA2 is denoted c.5728_5730delAAT at the cDNA level and p.Asn1910del (N1910del) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AGAT[delAAT]GATG. This deletion occurs in a region which is that is not conserved and is located in the RAD51 binding domain (Roy 2012). 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 Asn1910del to be a variant of uncertain significance.

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