Genomic variant #0000000469

Chromosome 12
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.25398284C>T
Published as -
GERP 5.680
Segregation -
DB-ID KRAS_000003
dbSNP ID NA
Frequency -
Sources ;
Reference -
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     
KRAS NM_033360.2 ./. c.35G>A p.(=) missense_variant - 2/6 benign(0.361) r.(=) deleterious(0)


ClinVar @ MSeqDR

27622
Human Phenotype Ontology:HP:0002408,MedGen:C0917804,OMIM:108010,SNOMED CT:234142008|Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007|Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834|Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007|Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087|MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED CT:372142002|MeSH:D010051,MedGen:CN236629|MeSH:D015179,MedGen:CN236642|MedGen:C0853032|MedGen:CN517202
Cerebral arteriovenous malformation|Acute myeloid leukemia|Juvenile myelomonocytic leukemia|Non-small cell lung cancer|Neoplasm of the thyroid gland|Carcinoma of pancreas|Ovarian Neoplasms|Colorectal Neoplasms|Nevus sebaceous|not provided
HGVS variant names NC 000012.11:g.25398284C>A
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:190070.0006|OMIM Allelic Variant:190070.0026|UniProtKB (protein):P01116#VAR 006840
Gene symbol:Gene id. KRAS:3845
SO:0001583|missense variant
3
dbSNP ID 121913529
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

54289
Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013|Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007|Human Phenotype Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890|MeSH:D010051,MedGen:CN236629|MeSH:D015179,MedGen:CN236642
Lung adenocarcinoma|Non-small cell lung cancer|Gastrointestinal stroma tumor|Ovarian Neoplasms|Colorectal Neoplasms
HGVS variant names NC 000012.11:g.25398284C>G
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
UniProtKB (protein):P01116#VAR 036305
Gene symbol:Gene id. KRAS:3845
SO:0001583|missense variant
2
dbSNP ID 121913529
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

0.00002
27621
Gene:6765,Human Phenotype Ontology:HP:0100615,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001|Human Phenotype Ontology:HP:0002408,MedGen:C0917804,OMIM:108010,SNOMED CT:234142008|Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007|Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007|Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003|Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834|Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007|Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087|MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED CT:372142002|MeSH:D010051,MedGen:CN236629|MeSH:D015179,MedGen:CN236642|MedGen:C0265318,OMIM:163200,SNOMED CT:239112008|MedGen:C0684249,OMIM:211980,SNOMED CT:187875007|MedGen:C0853032|MedGen:C2674723,OMIM:614470,Orphanet:ORPHA268114|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN517202
Neoplasm of ovary|Cerebral arteriovenous malformation|Acute myeloid leukemia|Neoplasm of stomach|Epidermal nevus|Juvenile myelomonocytic leukemia|Non-small cell lung cancer|Neoplasm of the thyroid gland|Carcinoma of pancreas|Ovarian Neoplasms|Colorectal Neoplasms|Epidermal nevus syndrome|Lung cancer|Nevus sebaceous|RAS-associated autoimmune leukoproliferative disorder|Rasopathy|not provided
HGVS variant names NC 000012.11:g.25398284C>T
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:190070.0005|OMIM Allelic Variant:190070.0025|UniProtKB (protein):P01116#VAR 016026
Gene symbol:Gene id. KRAS:3845
SO:0001583|missense variant
3
dbSNP ID 121913529
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
rs121913529122539828425398284C/G/T/AOMIM phenotype variantsPANCREATIC CARCINOMA, SOMATIC
rs121913529122539828425398284C/G/T/AOMIM phenotype variantsNEVUS SEBACEOUS, SOMATIC
rs121913529122539828425398284C/G/T/AOMIM phenotype variantsNon-small cell lung cancer
rs121913529122539828425398284C/G/T/AOMIM phenotype variantsGASTRIC CANCER, SOMATIC
rs121913529122539828425398284C/G/T/AOMIM phenotype variantsNevus, epidermal, somatic
rs121913529122539828425398284C/G/T/AOMIM phenotype variantsSCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC
CM087372122539828425398284HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available