ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.327_328del (p.Phe109fs)

dbSNP: rs1064795434
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV002289640 SCV002583071 likely pathogenic Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002289641 SCV002582409 likely pathogenic Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001053810 SCV001218091 pathogenic Li-Fraumeni syndrome 2019-12-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). This variant has not been reported in the literature in individuals with TP53-related conditions. ClinVar contains an entry for this variant (Variation ID: 421902). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe109Leufs*39) in the TP53 gene. It is expected to result in an absent or disrupted protein product.
GeneDx RCV000479264 SCV000571235 likely pathogenic not provided 2016-08-04 criteria provided, single submitter clinical testing This deletion of two nucleotides in TP53 is denoted c.327_328delCC at the cDNA level and p.Phe109LeufsX39 (F109LfsX39) at the protein level. The normal sequence, with the bases that are deleted in braces, is GTTT[CC]GTCT. The deletion causes a frameshift which changes a Phenylalanine to a Leucine at codon 109, and creates a premature stop codon at position 39 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.

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