ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9707_9715delinsCAC (p.Lys3236_Ser3239delinsThrPro)

dbSNP: rs1593201696
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019658 SCV001181045 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-13 criteria provided, single submitter clinical testing The c.9707_9715delAAAGGAAGTinsCAC variant (also known as p.K3236_S3239delinsTP), located in coding exon 26 of the BRCA2 gene, results from an in-frame deletion of AAAGGAAGT and insertion of CAC at nucleotide positions 9707 to 9715. This results in the deletion of a lysine, arginine, lysine, and serine and insertion of a threonine and proline at codons 3236 to 3239. This amino acid region is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001776081 SCV002012971 uncertain significance not provided 2021-03-30 criteria provided, single submitter clinical testing In-frame deletion of 4 amino acids and insertion of 2 amino acids in a non-repeat region; Not observed in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge

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