ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.77_80delinsAAGAACGT (p.Leu26fs)

dbSNP: rs397516438
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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 RCV000569180 SCV000664446 pathogenic Hereditary cancer-predisposing syndrome 2017-08-07 criteria provided, single submitter clinical testing The c.77_80delTTCCinsAAGAACGT pathogenic mutation, located in coding exon 2 of the TP53 gene, results from the deletion of 4 nucleotides and insertion of 8 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.L26Qfs*4). 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036535 SCV000060190 likely pathogenic Li-Fraumeni syndrome 2009-02-05 no assertion criteria provided clinical testing

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