ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.417G>T (p.Lys139Asn)

dbSNP: rs1567554121
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709406 SCV000839121 uncertain significance Li-Fraumeni syndrome 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000709406 SCV002956462 uncertain significance Li-Fraumeni syndrome 2022-05-27 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with breast cancer, thyroid cancer (PMID: 31321604). ClinVar contains an entry for this variant (Variation ID: 584923). Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is expected to disrupt TP53 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 139 of the TP53 protein (p.Lys139Asn).

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