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Gene CDKN2A
Variant G122V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A G122V lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). G122V results in Cdk6 binding similar to wild-type Cdkn2a but decreased binding to Cdk4 in in vitro assays, and decreased inhibition of proliferation in cultured cells in one study (PMID: 10951521), but retains the ability to inhibit proliferation and cell cycle progression in culture in another study (PMID: 35001868), and therefore, its effect on Cdkn2a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A G122V

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Transcript NM_000077.5
gDNA chr9:g.21970994C>A
cDNA c.365G>T
Protein p.G122V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517676.2 chr9:g.21970994C>A c.365G>T p.G122V RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21970994C>A c.365G>T p.G122V RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21970994C>A c.365G>T p.G122V RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21970994C>A c.365G>T p.G122V RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21970994C>A c.365G>T p.G122V RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21970994C>A c.365G>T p.G122V RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21970994C>A c.365G>T p.G122V RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21970994C>A c.365G>T p.G122V RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CDKN2A mutant skin melanoma not applicable N/A Guideline Risk Factor Germline CDKN2A mutations or polymorphisms are associated with increased risk of developing single or multiple primary cutaneous melanomas (NCCN.org). detail...
CDKN2A mutant pancreatic cancer no benefit Palbociclib Phase II Actionable In a Phase II trial (TAPUR), patients with pancreatic cancer harboring a CDKN2A mutation or loss of CDKN2A (n=10) did not demonstrate an objective response or stable disease at 16 weeks when treated with single therapy, Ibrance (palbociclib), demonstrating a median progression-free survival of 7.2 weeks and an overall survival of 12.4 weeks (JCO Precision Oncology, Aug 14, 2019; NCT02693535). detail...
CDKN2A mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in CDKN2A results in familial malignant melanoma syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
CDKN2A mutant biliary tract cancer no benefit Palbociclib Phase II Actionable In a Phase II trial (TAPUR), patients with biliary cancer harboring a CDKN2A mutation or loss of CDKN2A (n=10) did not demonstrate an objective response or stable disease at 16 weeks when treated with single therapy, Ibrance (palbociclib), demonstrating a median progression-free survival of 7.3 weeks and an overall survival of 11.1 weeks (JCO Precision Oncology, Aug 14, 2019; NCT02693535). detail...