ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.557_559+2delinsGGGG

dbSNP: rs1567552467
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780794 SCV000918351 likely pathogenic not specified 2018-05-22 criteria provided, single submitter clinical testing Variant summary: TP53 c.557_559+2delinsGGGG is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, inclusion of intronic material or truncation (p.Asp186GlyfsX23). Several computational tools predict a significant impact on normal splicing: Five predict the variant abolishes a 5 splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 246146 control chromosomes (gnomAD). To our knowledge, no occurrence of c.557_559+2delinsGGGG in individuals affected with Li-Fraumeni Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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