ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.315C>G (p.Asp105Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002320905 SCV002610642 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-26 criteria provided, single submitter clinical testing The p.D105E variant (also known as c.315C>G), located in coding exon 2 of the CDKN2A gene, results from a C to G substitution at nucleotide position 315. The aspartic acid at codon 105 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid substitution was identified in an a non-melanoma carrier (Miller, PJ et al. Hum Mutat 2011 Aug;32(8):900-11). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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