View genomic variant #0000000193

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.43614996G>C
Published as -
GERP 5.360
Segregation -
DB-ID RET_000002
MSCV MSCV_0000193
dbSNP ID rs79658334
Frequency -
Sources ; clinvar;
Reference 11589684;11932300;3697657;12694233;15741265;11788682;8797874;7784092
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     
RET 00003304 NM_020975.4 0000000193 +/+ c.2410G>C p.(Val804Leu) missense_variant - 14/19 probably_damaging(0.999) r.(?) deleterious(0.02)
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ClinVar @ MSeqDR

RCVaccession RCV000515232; RCV000268357; RCV000515232; RCV000210181; RCV000515232; RCV000586783; RCV000021852; RCV000148773; RCV000499191; RCV000515232; RCV000014972; RCV000515232; RCV000515232; RCV000515232; RCV000182584; RCV000508528;
Chromosome 10:43614996..43614996
Allele frequencies from ESP 0.0001
Allele frequencies from ExAC 0.00020
ClinVar Allele ID 28984
Disease database name and identifier .|Human Phenotype Ontology:HP:0002666, MedGen:C0031511, OMIM:171300|MeSH:D018813, MedGen:C0025268, OMIM:171400, Orphanet:ORPHA247698, SNOMED CT:61808009|MeSH:D018814, MedGen:C0025269, OMIM:162300, Orphanet:ORPHA247709, SNOMED CT:6153000, SNOMED CT:61530001|MedGen:C0027672, SNOMED CT:699346009|MedGen:C1275808, OMIM:209880, Orphanet:ORPHA661, SNOMED CT:399040002|MedGen:C1619700, OMIM:191830|MedGen:C1833921, OMIM:155240, Orphanet:ORPHA99361|MedGen:C2931876, OMIM:142623|MedGen:CN073359, Orphanet:ORPHA653, SNOMED CT:61808009|MedGen:CN076152|MedGen:CN169374|MedGen:CN517202
ClinVar preferred disease name MEN2A and FMTC|Pheochromocytoma|Multiple endocrine neoplasia, type 2a|Multiple endocrine neoplasia, type 2b|Hereditary cancer-predisposing syndrome|Congenital central hypoventilation|Renal adysplasia|Familial medullary thyroid carcinoma|Hirschsprung disease 1|Multiple endocrine neoplasia, type 2|MEN2 phenotype: Unclassified|not specified|not provided
HGVS variant names NC 000010.10:g.43614996G>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 ARUP Laboratories, Molecular Genetics and Genomics:2132|OMIM Allelic Variant:164761.0043|UniProtKB (protein):P07949#VAR 006337
Gene symbol:Gene id. RET:5979
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 79658334
For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN 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. 13945:Pathogenic
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000021853; RCV000436948; RCV000419916; RCV000426266; RCV000425568; RCV000437130; RCV000479688;
Chromosome 10:43614996..43614996
ClinVar Allele ID 47217
Disease database name and identifier Human Phenotype Ontology:HP:0002865, MeSH:C536914, MedGen:C0238462, Orphanet:ORPHA1332, SNOMED CT:255032005|MeSH:D018761, MedGen:C0025267, OMIM:131100, Orphanet:ORPHA652, SNOMED CT:30664006|MeSH:D018813, MedGen:C0025268, OMIM:171400, Orphanet:ORPHA247698, SNOMED CT:61808009|MeSH:D018814, MedGen:C0025269, OMIM:162300, Orphanet:ORPHA247709, SNOMED CT:6153000, SNOMED CT:61530001|MedGen:C1970712, OMIM:610755, Orphanet:ORPHA276152|MedGen:CN076152|MedGen:CN517202
ClinVar preferred disease name Medullary thyroid carcinoma|Multiple endocrine neoplasia, type 1|Multiple endocrine neoplasia, type 2a|Multiple endocrine neoplasia, type 2b|Multiple endocrine neoplasia, type 4|MEN2 phenotype: Unclassified|not provided
HGVS variant names NC 000010.10:g.43614996G>C
ClinVar review status criteria provided, single submitter
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported UniProtKB (protein):P07949#VAR 006336
Gene symbol:Gene id. RET:5979
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 79658334
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000014973; RCV000487450; RCV000561258; RCV000021854; RCV000487450; RCV000596480; RCV000354366; RCV000507419;
Chromosome 10:43614996..43614996
ClinVar Allele ID 28985
Disease database name and identifier .|MeSH:D018813, MedGen:C0025268, OMIM:171400, Orphanet:ORPHA247698, SNOMED CT:61808009|MedGen:C0027662, SNOMED CT:46724008|MedGen:C0027672, SNOMED CT:699346009|MedGen:C1833921, OMIM:155240, Orphanet:ORPHA99361|MedGen:CN169374|MedGen:CN517202
ClinVar preferred disease name MEN2A and FMTC|Multiple endocrine neoplasia, type 2a|Multiple endocrine neoplasia|Hereditary cancer-predisposing syndrome|Familial medullary thyroid carcinoma|not specified|not provided
HGVS variant names NC 000010.10:g.43614996G>T
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:6971|GenePathDx, Causeway Health Care Private Ltd:GPDx PHEO RET 001|OMIM Allelic Variant:164761.0044|UniProtKB (protein):P07949#VAR 006336
Gene symbol:Gene id. RET:5979
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 79658334
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
rs79658334104361499643614996G/T/A/COMIM phenotype variantsMULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
rs79658334104361499643614996G/T/A/COMIM phenotype variantsMedullary thyroid carcinoma
rs79658334104361499643614996G/T/A/COMIM phenotype variantsMEN2A and FMTC
rs79658334104361499643614996G/T/A/COMIM phenotype variantsMEN2 phenotype: Unclassified
rs79658334104361499643614996G/T/A/COMIM phenotype variantsFamilial medullary thyroid carcinoma
CM044035104361499643614996HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
CM951126104361499643614996HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
CM981707104361499643614996HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
CP995111104361499643614996HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available