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Gene | B2M |
Variant | L10P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | B2M L10P lies within the signal peptide region of the B2m protein (UniProt.org). L10P has been identified in the scientific literature (PMID: 31008436), but has not been biochemically characterized and therefore, its effect on B2m protein function is unknown (PubMed, Jan 2023). |
Associated Drug Resistance | |
Category Variants Paths |
B2M mutant B2M L10P |
Transcript | NM_004048.4 |
gDNA | chr15:g.44711575T>C |
cDNA | c.29T>C |
Protein | p.L10P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004048.2 | chr15:g.44711575T>C | c.29T>C | p.L10P | RefSeq | GRCh38/hg38 |
NM_004048 | chr15:g.44711575T>C | c.29T>C | p.L10P | RefSeq | GRCh38/hg38 |
XM_005254549 | chr15:g.44711575T>C | c.29T>C | p.L10P | RefSeq | GRCh38/hg38 |
NM_004048.4 | chr15:g.44711575T>C | c.29T>C | p.L10P | RefSeq | GRCh38/hg38 |
XM_005254549.3 | chr15:g.44711575T>C | c.29T>C | p.L10P | RefSeq | GRCh38/hg38 |
XM_005254549.4 | chr15:g.44711575T>C | c.29T>C | p.L10P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
B2M mutant | colorectal cancer | predicted - sensitive | unspecified PD-1 antibody | Clinical Study - Cohort | Actionable | In a clinical study, a cohort of colorectal cancer patients harboring B2M mutations demonstrated a clinical benefit of either a partial response or stable disease in 85% (11/13) when treated with a PD-1 or PD-L1 inhibitor (PMID: 31008436). | 31008436 |
B2M mutant | colorectal cancer | predicted - sensitive | unspecified PD-L1 antibody | Clinical Study - Cohort | Actionable | In a clinical study, a cohort of colorectal cancer patients harboring B2M mutations demonstrated a clinical benefit of either a partial response or stable disease in 85% (11/13) when treated with a PD-1 or PD-L1 inhibitor (PMID: 31008436). | 31008436 |