ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8344_8351delinsCA (p.Ser2782_Arg2784delinsGln) (rs1064795286)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478757 SCV000570954 likely pathogenic not provided 2017-11-08 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8344_8351delAGTACTCGinsCA at the cDNA level, p.Ser2782_Arg2784delinsGln (S2782_R2784delinsQ) at the protein level. The surrounding sequence is TAAC[delAGTACTCG][insCA]GCCT. This in frame deletion and insertion, also denoted BRCA2 8572_8579delAGTACTCGinsCA using alternate nomenclature, occurs on the same allele resulting in the deletion of three correct residues (Serine, Threonine, and Arginine) and the addition of one incorrect residue (Glutamine). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 c.8344_8351delAGTACTCGinsCA was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Even though this variant results in an in-frame transcript, the deleted residues are located within a region that is highly conserved and within the DNA binding domain as well as DSS1 contacting residue (Yang 2002). Based on currently available evidence, we consider c.8344_8351delAGTACTCGinsCA to be likely pathogenic.

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