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| Gene | ATM |
| Variant | S1135_K1192del |
| Impact List | deletion |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATM S1135_K1192del results in the deletion of 58 amino acids of the Atm protein from amino acids 1135 to 1192 (UniProt.org). S1135_K1192del is associated with loss of Atm expression and phosphorylation in patient samples (PMID: 36555667, PMID: 32748564), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATM mutant ATM S1135_K1192del |
| Transcript | NM_000051.4 |
| gDNA | chr11:g.108280995_108281168del174 |
| cDNA | c.3403_3576del174 |
| Protein | p.S1135_K1192del58 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000051.4 | chr11:g.108280995_108281168del174 | c.3403_3576del174 | p.S1135_K1192del58 | RefSeq | GRCh38/hg38 |
| XM_006718843.4 | chr11:g.108280995_108281168del174 | c.3403_3576del174 | p.S1135_K1192del | RefSeq | GRCh38/hg38 |
| XM_017017790.2 | chr11:g.108280995_108281168del174 | c.3403_3576del174 | p.S1135_K1192del | RefSeq | GRCh38/hg38 |
| XM_011542842.4 | chr11:g.108281160_108282874del1715 | c.3403_3576del1715 | p.V1135_F1192del58 | RefSeq | GRCh38/hg38 |
| XM_006718845.3 | chr11:g.108330353_108331548del1196 | c.3403_3576del1196 | p.W1135_V1192del58 | RefSeq | GRCh38/hg38 |
| NM_001351834.2 | chr11:g.108280995_108281168del174 | c.3403_3576del174 | p.S1135_K1192del58 | RefSeq | GRCh38/hg38 |
| XM_011542844.4 | chr11:g.108292629_108293321del693 | c.3403_3576del693 | p.I1135_D1192del58 | RefSeq | GRCh38/hg38 |
| XM_011542840.3 | chr11:g.108280995_108281168del174 | c.3403_3576del174 | p.S1135_K1192del | RefSeq | GRCh38/hg38 |
| NM_000051.3 | chr11:g.108280995_108281168del174 | c.3403_3576del174 | p.S1135_K1192del | RefSeq | GRCh38/hg38 |
| XM_047426978.1 | chr11:g.108281160_108282874del1715 | c.3403_3576del1715 | p.V1135_F1192del58 | RefSeq | GRCh38/hg38 |
| NM_001351834.1 | chr11:g.108280995_108281168del174 | c.3403_3576del174 | p.S1135_K1192del | RefSeq | GRCh38/hg38 |
| XM_047426981.1 | chr11:g.108280995_108281168del174 | c.3403_3576del174 | p.S1135_K1192del58 | RefSeq | GRCh38/hg38 |
| XM_047426976.1 | chr11:g.108280995_108281168del174 | c.3403_3576del174 | p.S1135_K1192del58 | RefSeq | GRCh38/hg38 |
| XM_005271562.5 | chr11:g.108280995_108281168del174 | c.3403_3576del174 | p.S1135_K1192del | RefSeq | GRCh38/hg38 |
| XM_011542843.3 | chr11:g.108280995_108281168del174 | c.3403_3576del174 | p.S1135_K1192del58 | RefSeq | GRCh38/hg38 |
| XM_047426977.1 | chr11:g.108281160_108282874del1715 | c.3403_3576del1715 | p.V1135_F1192del58 | RefSeq | GRCh38/hg38 |
| XM_006718843.5 | chr11:g.108280995_108281168del174 | c.3403_3576del174 | p.S1135_K1192del58 | RefSeq | GRCh38/hg38 |
| XM_005271562.6 | chr11:g.108280995_108281168del174 | c.3403_3576del174 | p.S1135_K1192del58 | RefSeq | GRCh38/hg38 |
| XM_017017789.2 | chr11:g.108280995_108281168del174 | c.3403_3576del174 | p.S1135_K1192del | RefSeq | GRCh38/hg38 |
| XM_047426979.1 | chr11:g.108281160_108282874del1715 | c.3403_3576del1715 | p.V1135_F1192del58 | RefSeq | GRCh38/hg38 |
| XM_047426975.1 | chr11:g.108280995_108281168del174 | c.3403_3576del174 | p.S1135_K1192del58 | RefSeq | GRCh38/hg38 |
| XM_011542840.4 | chr11:g.108280995_108281168del174 | c.3403_3576del174 | p.S1135_K1192del58 | RefSeq | GRCh38/hg38 |
| XM_017017790.3 | chr11:g.108280995_108281168del174 | c.3403_3576del174 | p.S1135_K1192del58 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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