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Gene CDKN2A
Variant A17fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A A17fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 17 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). A17fs has not been characterized, however, due to the effects of other truncation mutations downstream of A17 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A A17fs

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Transcript NM_000077.5
gDNA chr9:g.(21974779_21974780)
cDNA c.(49_48)
Protein p.A17fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001363763.2 chr9:g.(21971157_21971158) c.(49_48) p.A17fs RefSeq GRCh38/hg38
XM_047422596.1 chr9:g.(21971157_21971158) c.(49_48) p.A17fs RefSeq GRCh38/hg38
XM_047422598.1 chr9:g.(21971157_21971158) c.(49_48) p.A17fs RefSeq GRCh38/hg38
XM_047422597.1 chr9:g.(21971157_21971158) c.(49_48) p.A17fs RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.(21974779_21974780) c.(49_48) p.A17fs RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21974779_21974780) c.(49_48) p.A17fs RefSeq GRCh38/hg38
NM_058197.5 chr9:g.(21974779_21974780) c.(49_48) p.A17fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21974779_21974780) c.(49_48) p.A17fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21974779_21974780) c.(49_48) p.A17fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CDKN2A A17fs lung adenocarcinoma predicted - sensitive Palbociclib Case Reports/Case Series Actionable In a Phase II trial (TAPUR), Ibrance (palbociclib) treatment resulted in a partial response in a patient with lung adenocarcinoma harboring CDKN2A A17fs (PMID: 35050752; NCT02693535). 35050752