ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9338TTA[1] (p.Ile3114del)

dbSNP: rs876660664
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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 RCV000213352 SCV000278278 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-07 criteria provided, single submitter clinical testing The c.9341_9343delTTA variant (also known as p.I3114DEL) is located in coding exon 24 of the BRCA2 gene. This variant results from an in-frame deletion of 3 nucleotides (TTA) between nucleotide positions 9341 and 9343, causing the removal of an isoleucine residue at codon 31114. This amino acid position is 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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