Genomic variant #0000000275

Chromosome 11
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.534289C>A
Published as -
GERP 3.000
Segregation -
DB-ID HRAS_000004
dbSNP ID rs104894229
Frequency -
Sources ;
Reference 11150980;17412879;20660566;16443854;19382114;22926243;16329078;17054105;18039947;19371735;{PMID
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
HRAS NM_176795.3 ?/? c.34G>T p.(Gly12Cys) missense_variant,NMD_transcript_variant - 2/7 probably_damaging(0.999) r.(?) deleterious(0.04)


ClinVar @ MSeqDR

27652
Human Phenotype Ontology:HP:0002862,MedGen:C0699885|Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007|Human Phenotype Ontology:HP:0006725,MedGen:C0281361|Human Phenotype Ontology:HP:0006739,MedGen:C0553723|Human Phenotype Ontology:HP:0006740,MedGen:C0279680|Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005|Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003|Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482|Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013|Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005|Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087|Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009|MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037|MeSH:C538614,MedGen:C1336078|MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004|MeSH:D002583,MedGen:CN236667|MeSH:D003528,MedGen:C0010606|MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688|MeSH:D009303,MedGen:C0027439|MeSH:D015179,MedGen:CN236642|MedGen:C0007112|MedGen:C0153574,Orphanet:ORPHA213569|MedGen:C0278701|MedGen:C0279663|MedGen:C0280630|MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008|MedGen:C0853032|MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN517202
Bladder carcinoma|Acute myeloid leukemia|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Transitional cell carcinoma of the bladder|Multiple myeloma|Epidermal nevus|Carcinoma of esophagus|Lung adenocarcinoma|Neoplasm of the breast|Neoplasm of the thyroid gland|Glioblastoma|Squamous cell carcinoma of the head and neck|Papillary renal cell carcinoma, sporadic|Malignant melanoma of skin|Uterine cervical neoplasms|Adenoid cystic carcinoma|Myelodysplastic syndrome|Nasopharyngeal Neoplasms|Colorectal Neoplasms|Adenocarcinoma of prostate|Malignant neoplasm of body of uterus|Adenocarcinoma of stomach|Ovarian Serous Cystadenocarcinoma|Uterine Carcinosarcoma|Costello syndrome|Nevus sebaceous|Hepatocellular carcinoma|Rasopathy|not provided
HGVS variant names NC 000011.9:g.534289C>A
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:190020.0014|UniProtKB (protein):P01112#VAR 045975
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
SO:0001583|missense variant,SO:0001623|5 prime UTR variant
3
dbSNP ID 104894229
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

362840
Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087|MeSH:D015179,MedGen:CN236642
Neoplasm of the thyroid gland|Colorectal Neoplasms
HGVS variant names NC 000011.9:g.534289C>G
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
SO:0001583|missense variant,SO:0001623|5 prime UTR variant
2
dbSNP ID 104894229
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

27641
Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007|Human Phenotype Ontology:HP:0006725,MedGen:C0281361|Human Phenotype Ontology:HP:0006739,MedGen:C0553723|Human Phenotype Ontology:HP:0006740,MedGen:C0279680|Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005|Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482|Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013|Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005|Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087|Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009|MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037|MeSH:C538614,MedGen:C1336078|MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004|MeSH:D002583,MedGen:CN236667|MeSH:D003528,MedGen:C0010606|MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688|MeSH:D009303,MedGen:C0027439|MeSH:D015179,MedGen:CN236642|MedGen:C0007112|MedGen:C0153574,Orphanet:ORPHA213569|MedGen:C0278701|MedGen:C0279663|MedGen:C0280630|MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008|MedGen:C0853032|MedGen:C1968782|MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001|MedGen:C3277679|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN231320|MedGen:CN517202
Acute myeloid leukemia|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Transitional cell carcinoma of the bladder|Multiple myeloma|Carcinoma of esophagus|Lung adenocarcinoma|Neoplasm of the breast|Neoplasm of the thyroid gland|Glioblastoma|Squamous cell carcinoma of the head and neck|Papillary renal cell carcinoma, sporadic|Malignant melanoma of skin|Uterine cervical neoplasms|Adenoid cystic carcinoma|Myelodysplastic syndrome|Nasopharyngeal Neoplasms|Colorectal Neoplasms|Adenocarcinoma of prostate|Malignant neoplasm of body of uterus|Adenocarcinoma of stomach|Ovarian Serous Cystadenocarcinoma|Uterine Carcinosarcoma|Costello syndrome|Nevus sebaceous|Myopathy, congenital, with excess of muscle spindles|Hepatocellular carcinoma|Epidermal nevus with urothelial cancer, somatic|Rasopathy|not specified|Nevus, woolly hair|not provided
HGVS variant names NC 000011.9:g.534289C>T
reviewed by expert panel
Clinical Significance
single nucleotide variant
SO:0001483
ARUP Laboratories, Molecular Genetics and Genomics:149306|HGMD:CM053283|OMIM Allelic Variant:190020.0003|UniProtKB (protein):P01112#VAR 006837
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
SO:0001583|missense variant,SO:0001623|5 prime UTR variant
35
dbSNP ID 104894229
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs10489422911534289534289C/G/T/AOMIM phenotype variantsCOSTELLO SYNDROME
rs10489422911534289534289C/G/T/AOMIM phenotype variantsNEVUS SEBACEOUS, SOMATIC
rs10489422911534289534289C/G/T/AOMIM phenotype variantsNevus, epidermal, somatic
rs10489422911534289534289C/G/T/AOMIM phenotype variantsMYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
rs10489422911534289534289C/G/T/AOMIM phenotype variantsEPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC
CM05328311534289534289HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
CM06179711534289534289HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available