ClinVar Miner

Submissions for variant NM_000077.4(CDKN2A):c.151-1G>T (rs730881677)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484574 SCV000571431 pathogenic not provided 2016-08-20 criteria provided, single submitter clinical testing This pathogenic variant is denoted CDKN2A c.151-1G>T or IVS1-1G>T and consists of a G>T nucleotide substitution at the -1 position of intron 1 of the CDKN2A gene. This variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. Although this variant has not, to our knowledge, been reported in the literature, another variant at the same position, CDKN2A c.151-1G>C, has been observed in at least three families with melanoma, dysplastic nevi, and a variety of other benign and malignant tumors, including several individuals with neurofibromas (Petronzelli 2001, Prowse 2003, Sargen 2016). Additionally, the CDKN2A c.151-1G>C variant has been shown on RT-PCR studies to result in skipping of exon 2 (Petronzelli 2001, Prowse 2003). Based on the current evidence, we consider CDKN2A c.151-1G>T to be pathogenic.
MutSpliceDB: a database of splice sites variants effects on splicing,NIH RCV000484574 SCV000925681 not provided not provided no assertion provided in vitro

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