ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.774_780delinsT (p.Gln258_Glu260delinsHis)

dbSNP: rs786202291
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165028 SCV000215725 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-14 criteria provided, single submitter clinical testing The c.774_780delAAGAGAAinsT variant, located in coding exon 8 of the BRCA2 gene, results from an in-frame deletion of AAGAGAA and insertion of T at nucleotide positions 774 to 780. This results in the deletion of the glutamine, arginine, and glutamic acid residues at codons 258 to 260 and insertion of a histidine residue. These amino acid positions are not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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