ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.307_308del (p.Arg103fs) (rs886041162)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000348730 SCV000329239 pathogenic not provided 2016-11-09 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in CDKN2A is denoted c.307_308delCG at the cDNA level and p.Arg103AlafsX16 (R103AfsX16) at the protein level. The normal sequence, with the bases that are deleted in braces, is GGCG[CG]GCTG. The deletion causes a frameshift which changes an Arginine to an Alanine at codon 103, and creates a premature stop codon at position 16 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. CDKN2A c.307_308delCG has been reported in a patient with multiple primary melanoma and functional yeast two-hybrid assay of this variant demonstrated significantly decreased binding activity to CDK4 in comparison to wild-type (Monzon 1998). We consider this variant to be pathogenic.
Invitae RCV001239756 SCV001412653 uncertain significance Hereditary melanoma 2020-08-05 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the CDKN2A (p14ARF) gene (p.Ala117Glyfs*43). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acids of the CDKN2A (p14ARF) protein and extend the protein by an additional 26 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CDKN2A (p14ARF)-related conditions. 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.

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