11:534289-534289 C > T

Classification

Category 1
CMH MAF 1 / 9594 samples (0.0104%)
1 het., 0 hom. (100%)
1 / 19188 total alleles (0.00521%)

gene: HRAS synonym(s): C-BAS%2FHAS, C-H-RAS, C-HA-RAS1, CTLO, H-RASIDX, HAMSV, HRAS1, K-RAS, N-RAS, RASH1, HRAS, ENSG00000174775

OMIM
OMIM:190020: HRAS
OMIM:109800: Bladder cancer, somatic
OMIM:218040: Congenital myopathy with excess of muscle spindles
OMIM:218040: Costello syndrome
OMIM:162900: Nevus sebaceous or woolly hair nevus, somatic
OMIM:163200: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic
OMIM:137550: Spitz nevus or nevus spilus, somatic
OMIM:188470: Thyroid carcinoma, follicular, somatic

NM_005343.2 [CDS]
hgvs_c: NM_005343.2:c.34G>A
reference AA: G
variant AA: S
reference codon: Ggc
variant codon: Agc
cDNA pos: 222
CDS pos: 34
translation impact: non_synonymous
protein sequence: NP_005334.1
AA pos: 12
hgvs_p: NP_005334.1:p.Gly12Ser
blosum: 0
SIFT: deleterious (0.02)
PolyPhen2: possibly_damaging (0.525)

rs104894229

12602
clinvar_significance = Pathogenic
clinvar_disease = Acute myeloid leukemia
clinvar_disease = Pancreatic adenocarcinoma
clinvar_disease = Squamous cell carcinoma of the skin
clinvar_disease = Transitional cell carcinoma of the bladder
clinvar_disease = Multiple myeloma
clinvar_disease = Carcinoma of esophagus
clinvar_disease = Adenocarcinoma of lung
clinvar_disease = Neoplasm of the breast
clinvar_disease = Neoplasm of the thyroid gland
clinvar_disease = Glioblastoma
clinvar_disease = Squamous cell carcinoma of the head and neck
clinvar_disease = Papillary renal cell carcinoma

COSMIC Mutation ID = COSM1746299
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true
COSMIC Mutation ID = COSM480
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true