ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.416_420dup (p.Cys141fs)

dbSNP: rs1555526250
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Yang An-Suei Laboratory, Academia Sinica RCV000504610 SCV000583423 pathogenic Breast neoplasm criteria provided, single submitter clinical testing
Ambry Genetics RCV002329178 SCV002626872 pathogenic Hereditary cancer-predisposing syndrome 2016-11-17 criteria provided, single submitter clinical testing The c.416_420dupAGACC pathogenic mutation, located in coding exon 4 of the TP53 gene, results from a duplication of AGACC at nucleotide position 416, causing a translational frameshift with a predicted alternate stop codon. 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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