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Gene | NRAS |
Variant | G12D |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | NRAS G12D is a hotspot mutation that lies within a GTP-binding region of the Nras protein (UniProt.org). G12D confers a loss of function on Nras protein as indicated by decreased intrinsic GTPase activity, reduced sensitivity to GTPase-activating proteins, leading to accumulation of GTP-bound Nras, activation of downstream signaling, and transformation of cultured cells (PMID: 19075190, PMID: 25252692). |
Associated Drug Resistance | |
Category Variants Paths |
NRAS mutant NRAS act mut NRAS G12D NRAS mutant NRAS exon2 NRAS G12X NRAS G12D |
Transcript | NM_002524.5 |
gDNA | chr1:g.114716126C>T |
cDNA | c.35G>A |
Protein | p.G12D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002524 | chr1:g.114716126C>T | c.35G>A | p.G12D | RefSeq | GRCh38/hg38 |
NM_002524.4 | chr1:g.114716126C>T | c.35G>A | p.G12D | RefSeq | GRCh38/hg38 |
NM_002524.5 | chr1:g.114716126C>T | c.35G>A | p.G12D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
NRAS G12D | acute myeloid leukemia | sensitive | Binimetinib | Preclinical | Actionable | In a preclinical study, Binimetinib (MEK162) inhibited growth of acute myeloid leukemia cells that have been demonstrated to harbor NRAS G12D in culture and decreased disease burden in xenograft models with NRAS G12D (PMID: 24569456, PMID: 11238126). | 24569456 11238126 |
NRAS G12D | acute myeloid leukemia | sensitive | Alpelisib + Binimetinib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, the combination of Binimetinib (MEK162) and Alpelisib (BYL719) inhibited proliferation in a human acute myeloid leukemia (AML) cell line harboring NRAS G12D in culture, and decreased disease burden in xenograft models (PMID: 24569456). | 24569456 |
NRAS G12D | Advanced Solid Tumor | sensitive | N-Arachidonoyl Dopamine | Preclinical - Cell culture | Actionable | In a preclinical study, N-Arachidonoyl Dopamine (NADA) disrupted NRAS protein membrane localization and decreased NRAS downstream signaling, and inhibited proliferation and induced cell death in transformed cells expressing NRAS G12D in culture (PMID: 27760835). | 27760835 |
NRAS G12D | Advanced Solid Tumor | no benefit | NS1 | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing NRAS G12D did not respond to treatment with NS1 in culture, resulting in sustained downstream signaling and cell transformation (PMID: 27820802). | 27820802 |
NRAS G12D | B-lymphoblastic leukemia/lymphoma | predicted - sensitive | Anti-CD19 CAR-T cells | Case Reports/Case Series | Actionable | In a clinical case study, treatment with an investigational anti-CD19 CAR-T cells therapy resulted in rapid elimination of leukemic cells, including a subclone harboring NRAS G12D, in a patient with relapsed Philadelphia chromosome (Ph)-like acute lymphoblastic leukemia, the NRAS G12D subclone remained undetectable at disease progression 6 weeks after treatment (PMID: 31905241). | 31905241 |
NRAS G12D | ovarian cancer | predicted - resistant | BI-3406 | Preclinical - Cell culture | Actionable | In a preclinical study, BI-3406 treatment failed to inhibit growth of ovarian cancer cells harboring NRAS G12D in culture (PMID: 32816843). | 32816843 |
NRAS G12D | colorectal cancer | predicted - sensitive | GI-4000 | Phase I | Actionable | In a Phase I trial, GI-4000 was well tolerated, induced immune response in 61.3% (19/31) of evaluable subjects, and resulted in stable disease as best response in 18% (6/33) of patients with advanced pancreatic or colorectal cancer harboring KRAS mutations, including KRAS G12C (n=3), KRAS G12D (n=6), KRAS G12V (n=8), KRAS Q61L (n=1), and NRAS G12D (n=1) in patients with colorectal cancer (PMID: 29528991). | 29528991 |
NRAS G12D | melanoma | sensitive | ASTX029 | Preclinical - Cell culture | Actionable | In a preclinical study, ASTX029 treatment inhibited growth of a melanoma cell line harboring NRAS G12D in culture (PMID: 34330842). | 34330842 |
NRAS G12D | acute myeloid leukemia | sensitive | ASTX029 | Preclinical - Cell culture | Actionable | In a preclinical study, acute myeloid leukemia cells harboring NRAS G12D were sensitive to treatment with ASTX029 in culture (PMID: 34330842). | 34330842 |
NRAS G12D | melanoma | predicted - sensitive | Tunlametinib | Case Reports/Case Series | Actionable | In a Phase II trial, Tunlametinib (HL-085) treatment resulted in a confirmed objective response rate of 35.8% (34/95, all partial responses), a median progression-free survival of 4.2 months, disease control rate of 72.6% (69/95), median duration of response of 6.1 months, and median overall survival of 13.7 months in Chinese patients with advanced melanoma harboring NRAS mutations including NRAS Q61R (40%), Q61K (29.5%), and G12D (9.5%) (PMID: 38479118; NCT05217303). | 38479118 |
NRAS G12D | Advanced Solid Tumor | sensitive | IHMT-RAF-128 | Preclinical - Cell culture | Actionable | In a preclinical study, IHMT-RAF-128 inhibited proliferation of a cell line expressing NRAS G12D in culture (PMID: 37164118). | 37164118 |
NRAS G12D | multiple myeloma | sensitive | Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, a multiple myeloma cell line harboring NRAS G12D was sensitive to treatment with Mekinist (trametinib) in culture, demonstrating decreased cell viability (PMID: 37339170). | 37339170 |
NRAS G12D | multiple myeloma | no benefit | MRTX-1133 | Preclinical - Cell culture | Actionable | In a preclinical study, a multiple myeloma cell line harboring NRAS G12D was not sensitive to treatment with MRTX1133 in culture (PMID: 37339170). | 37339170 |
NRAS G12D | Advanced Solid Tumor | no benefit | MRTX-1133 | Preclinical - Cell culture | Actionable | In a preclinical study, cultured cells expressing NRAS G12D were not sensitive to treatment with MRTX1133 (PMID: 37339170). | 37339170 |
NRAS G12D | acute myeloid leukemia | resistant | RMC-4550 | Preclinical - Cell culture | Actionable | In a preclinical study, an acute myeloid leukemia cell line harboring NRAS G12D was resistant to RMC-4550 treatment in culture (PMID: 37992684). | 37992684 |
NRAS G12D | acral lentiginous melanoma | predicted - sensitive | Tovorafenib | Case Reports/Case Series | Actionable | In a clinical case study, Ojemda (tovorafenib) treatment resulted in a partial response with therapy lasting at least 7.5 years in a patient with metastatic acral melanoma harboring NRAS G12D (PMID: 39001563). | 39001563 |