ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.486_489delinsTGTAGACTGCTTGT (p.Tyr163fs)

dbSNP: rs1597370312
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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 RCV001023164 SCV001184996 pathogenic Hereditary cancer-predisposing syndrome 2018-09-14 criteria provided, single submitter clinical testing The c.486_489delCTACins14 pathogenic mutation (also known as c.486_489delCTACinsTGTAGACTGCTTGT), located in coding exon 4 of the TP53 gene, results from the deletion of 4 nucleotides and insertion of 14 nucleotides at positions 486 to 489, causing a translational frameshift with a predicted alternate stop codon (p.Y163Vfs*5). 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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