View genomic variant #0000000278

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.534289C>T
Published as -
GERP 3.000
Segregation -
DB-ID HRAS_000006
MSCV MSCV_0000278
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

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
HRAS 00003315 NM_176795.3 0000000278 ./. c.34G>A p.(Gly12Ser) missense_variant,NMD_transcript_variant - 2/7 probably_damaging(0.993) r.(?) deleterious(0.02)
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ClinVar @ MSeqDR

RCVaccession RCV000424380; RCV000443678; RCV000428012; RCV000443826; RCV000440052; RCV000436802; RCV000421701; RCV000013447; RCV000032851; RCV000434677; RCV000418395; RCV000426992; RCV000429404; RCV000439243; RCV000436505; RCV000419553; RCV000431815; RCV000424087; RCV000429096; RCV00002;
Chromosome 11:534289..534289
ClinVar Allele ID 27652
Disease database name and identifier 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
ClinVar preferred disease name 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
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:190020.0014|UniProtKB (protein):P01112#VAR 045975
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant
Allele origin
dbSNP ID 104894229
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000431895; RCV000421560;
Chromosome 11:534289..534289
ClinVar Allele ID 362840
Disease database name and identifier Human Phenotype Ontology:HP:0100031, MeSH:D013964, MedGen:C0040136, Orphanet:ORPHA100087|MeSH:D015179, MedGen:CN236642
ClinVar preferred disease name Neoplasm of the thyroid gland|Colorectal Neoplasms
HGVS variant names NC 000011.9:g.534289C>G
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic/Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant
Allele origin somatic
dbSNP ID 104894229
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000422656; RCV000427772; RCV000423310; RCV000440993; RCV000445039; RCV000443940; RCV000013435; RCV000022796; RCV000432984; RCV000440237; RCV000420366; RCV000419709; RCV000430725; RCV000440297; RCV000440863; RCV000013436; RCV000422253; RCV000430608; RCV000425542; RCV00002;
Chromosome 11:534289..534289
ClinVar Allele ID 27641
Disease database name and identifier 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
ClinVar preferred disease name 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
ClinVar review status reviewed by expert panel
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported 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
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant
Allele origin
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