View genomic variant #0000000200

Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.43617416T>C
Published as -
GERP 5.430
Segregation -
DB-ID RET_000007
MSCV MSCV_0000200
dbSNP ID rs74799832
Frequency -
Sources ; clinvar;
Reference 15531714;18252215;7824936;9620546;23757202;7977365;2660074;3078962;7536460;7911697;{PMID:7906417:79064
Variant remarks -
Genetic origin -
Variant_disease -
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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Variant ID     

Affects function     

DNA change (cDNA)     

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GVS function     

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RNA change     

SIFT     
RET 00003304 NM_020975.4 0000000200 +/+ c.2753T>C p.(Met918Thr) missense_variant - 16/19 probably_damaging(1) r.(?) deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000014941; RCV000014942; RCV000014943; RCV000082054; RCV000161926; RCV000175096; RCV000415312; RCV000417859; RCV000425499; RCV000428538; RCV000444529; RCV000999916; RCV001266480;
Chromosome 10:43617416..43617416
ClinVar Allele ID 28958
Disease database name and identifier Human Phenotype Ontology:HP:0000195, Human Phenotype Ontology:HP:0000212, MedGen:C0376480|Human Phenotype Ontology:HP:0000316, Human Phenotype Ontology:HP:0000578, Human Phenotype Ontology:HP:0002001, Human Phenotype Ontology:HP:0004657, Human Phenotype Ontology:HP:0007871, MONDO:MONDO:0007778, MedGen:C0020534, OMIM:145400|Human Phenotype Ontology:HP:0000821, Human Phenotype Ontology:HP:0003222, Human Phenotype Ontology:HP:0008203, MONDO:MONDO:0005420, MedGen:C0020676|Human Phenotype Ontology:HP:0001378, Human Phenotype Ontology:HP:0001382, Human Phenotype Ontology:HP:0005034, MedGen:C1844820|Human Phenotype Ontology:HP:0001509, Human Phenotype Ontology:HP:0003501, Human Phenotype Ontology:HP:0003507, Human Phenotype Ontology:HP:0003512, Human Phenotype Ontology:HP:0003518, Human Phenotype Ontology:HP:0003519, Human Phenotype Ontology:HP:0004322, Human Phenotype Ontology:HP:0008871, Human Phenotype Ontology:HP:0008882, Human Phenotype Ontology:HP:0008888, Human Phenotype Ontology:HP:0008913, MedGen:C0349588|Human Phenotype Ontology:HP:0001636, MONDO:MONDO:0008542, MedGen:C0039685, OMIM:187500, Orphanet:ORPHA3303, SNOMED CT:86299006|Human Phenotype Ontology:HP:0002019, Human Phenotype Ontology:HP:0002241, Human Phenotype Ontology:HP:0003786, MedGen:C0009806|Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300|Human Phenotype Ontology:HP:0002865, MONDO:MONDO:0015277, MeSH:C536914, MedGen:C0238462, Orphanet:ORPHA1332, SNOMED CT:255032005|Human Phenotype Ontology:HP:0012471, MedGen:C1836543|Human Phenotype Ontology:HP:0100031, MONDO:MONDO:0015074, MeSH:D013964, MedGen:C0040136, Orphanet:ORPHA100087|MONDO:MONDO:0007540, MeSH:D018761, MedGen:C0025267, OMIM:131100, Orphanet:ORPHA652, SNOMED CT:30664006|MONDO:MONDO:0008082, MeSH:D018814, MedGen:C0025269, OMIM:162300, Orphanet:ORPHA247709, SNOMED CT:6153000, SNOMED CT:61530001|MONDO:MONDO:0008234, MeSH:D018813, MedGen:C0025268, OMIM:171400, Orphanet:ORPHA247698, SNOMED CT:61808009|MONDO:MONDO:0012552, MedGen:C1970712, OMIM:610755, Orphanet:ORPHA276152|MONDO:MONDO:0019003, MedGen:C4048306, Orphanet:ORPHA653, SNOMED CT:61808009|MeSH:D030342, MedGen:C0950123|MedGen:C1833929|MedGen:CN169374|MedGen:CN517202
ClinVar preferred disease name Gingival overgrowth|Hypertelorism|Hypothyroidism|Joint hypermobility|Short stature|Tetralogy of Fallot|Constipation|Pheochromocytoma|Medullary thyroid carcinoma|Thick vermilion border|Neoplasm of the thyroid gland|Multiple endocrine neoplasia, type 1|Multiple endocrine neoplasia, type 2b|Multiple endocrine neoplasia, type 2a|Multiple endocrine neoplasia, type 4|Multiple endocrine neoplasia, type 2|Inborn genetic diseases|Thyroid carcinoma, sporadic medullary|not specified|not provided
HGVS variant names NC 000010.10:g.43617416T>C
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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:2144|Center for Human Genetics, Inc, Center for Human Genetics, Inc:RET-A4|HGMD:CM941246|OMIM Allelic Variant:164761.0013|UniProtKB (protein):P07949#VAR 006342
Gene symbol:Gene id. RET:5979
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 74799832
For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN MONDO:MONDO:0008082, MeSH:D018814, MedGen:C0025269, OMIM:162300, Orphanet:ORPHA247709, SNOMED CT:6153000, SNOMED CT:61530001
For included Variant : ClinVar preferred disease name for the concept specified by disease identifiers in CLNDISDB Multiple endocrine neoplasia, type 2b
Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance. 549821:Pathogenic|549822:Pathogenic
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
rs74799832104361741643617416T/COMIM phenotype variantsMULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
rs74799832104361741643617416T/COMIM phenotype variantsMedullary thyroid carcinoma
rs74799832104361741643617416T/COMIM phenotype variantsMultiple neoplasia type 2B
rs74799832104361741643617416T/COMIM phenotype variantsRENAL ADYSPLASIA
rs74799832104361741643617416T/COMIM phenotype variantsMultiple neoplasia 2B
rs74799832104361741643617416T/COMIM phenotype variantsMultiple endocrine neoplasia, type 2b
rs74799832104361741643617416T/COMIM phenotype variantsThyroid carcinoma, sporadic medullary
rs74799832104361741643617416T/COMIM phenotype variantsPheochromocytoma, somatic
CM941246104361741643617416HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available