ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.267C>T (p.Gly89=)

gnomAD frequency: 0.00001  dbSNP: rs1404957845
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638950 SCV000760507 likely benign Familial melanoma 2024-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424414 SCV002744233 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-15 criteria provided, single submitter clinical testing The c.267C>T variant (also known as p.G89G), located in coding exon 2 of the CDKN2A gene, results from a C to T substitution at nucleotide position 267. This nucleotide substitution does not change the at codon 89. Of note, this alteration is also known as c.310C>T (p.L104F) in the p14(ARF) isoform and results from a C to T substitution at nucleotide position 310. The evidence for this gene-disease relationship is limited; therefore, the association of this alteration in the p14ARF isoform with melanoma-pancreatic cancer syndrome is unknown; however, the association of this alteration in the p16 isoform with melanoma-pancreatic cancer syndrome is unlikely.

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