ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.345_352delinsAGCC (p.His115fs)

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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 RCV002457200 SCV002615432 pathogenic Hereditary cancer-predisposing syndrome 2017-11-22 criteria provided, single submitter clinical testing The c.345_352delTTCTGGGAinsAGCC pathogenic mutation, located in coding exon 3 of the TP53 gene, results from the deletion of 8 nucleotides and insertion of 4 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.H115Qfs*7). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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