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Gene | CDK12 |
Variant | S1236fs |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | CDK12 S1236fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 1236 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). S1236fs has been identified in the scientific literature (PMID: 33119476), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Jan 2025). |
Associated Drug Resistance | |
Category Variants Paths |
CDK12 mutant CDK12 S1236fs |
Transcript | NM_016507.4 |
gDNA | chr17:g.(39526261_39526262) |
cDNA | c.(3706_3705) |
Protein | p.S1236fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011524906.2 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524907.2 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_005257458.4 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436257.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436260.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524907.3 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436268.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524896.2 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524897.2 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436256.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436278.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524894.2 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436265.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
NM_016507.4 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436273.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436277.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436287.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524905.2 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436270.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
NM_016507.3 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524895.2 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436269.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524895.3 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
NM_015083.4 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524893.2 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_017024747.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436266.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436259.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524894.3 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436275.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_024450801.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524903.2 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524900.2 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524901.2 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524906.3 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_017024751.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_017024750.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524898.3 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_017024749.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524899.2 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436255.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_017024752.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524893.3 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436267.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524902.2 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436279.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436288.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524897.3 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436276.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436272.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
NM_015083.2 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436289.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_011524898.2 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436261.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436274.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_017024748.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
XM_047436258.1 | chr17:g.(39526261_39526262) | c.(3706_3705) | p.S1236fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
CDK12 S1236fs | triple-receptor negative breast cancer | predicted - sensitive | Olaparib | Case Reports/Case Series | Actionable | In a Phase II trial (TBCRC 048), Lynparza (olaparib) treatment resulted in an unconfirmed partial response with a 33% tumor size reduction in a patient with metastatic triple negative breast cancer harboring a somatic CDK12 S1236fs mutation (PMID: 33119476; NCT03344965). | 33119476 |