G12D (p.Gly12Asp) variant of NRAS (GTPase NRas)
G12D (p.Gly12Asp) in NRAS (GTPase NRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of NRAS-related disorder; Noonan syndrome and Noonan-related syndrome; Cardiovascul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- rs121913237
- Civic 878
- ClinGen CA130425
- NCI-TCGA Cosmic COSV5473
- Pathogenic/Likely pathogenic
- NRAS-related disorder; Noonan syndrome and Noonan-related syndrome; Cardiovascul
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.78
- CADD 24.70
- PolyPhen-2 0.34
- SIFT 0.15
- ClinVar: Pathogenic/Likely pathogenic (NRAS-related disorder; Noonan syndrome and Noonan-related syndro)
- EBI: Pathogenic (in KNEN and JMML)
- UniProt: Pathogenic (in KNEN and JMML)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific… (PMID 17332249)
- Cited in: Keratinocytic epidermal nevi are associated with mosaic RAS mutations. (PMID 22499344)