ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.43_45del (p.Phe15del)

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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 RCV002331888 SCV002629736 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-14 criteria provided, single submitter clinical testing The c.43_45delTTT variant, also known as p.F15del, is located in coding exon 1 of the BRCA2 gene. This variant results from an in-frame TTT deletion at nucleotide positions 43 to 45, resulting in the in-frame deletion of a phenylalanine residue at codon 15. This nucleotide region is highly conserved. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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