Genomic variant #0000000191

Chromosome 10
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.43614996G>A
Published as -
GERP 5.360
Segregation -
DB-ID RET_000001
dbSNP ID rs79658334
Frequency -
Sources ; clinvar;
Reference 11589684;11932300;3697657;12694233;15741265;11788682;8797874;7784092
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 8.0E-5 View details
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
RET NM_020975.4 +/+ c.2410G>A p.(Val804Met) missense_variant - 14/19 probably_damaging(1) r.(?) deleterious(0.03)


ClinVar @ MSeqDR

0.0001
0.00020
28984
.|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
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
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
ARUP Laboratories, Molecular Genetics and Genomics:2132|OMIM Allelic Variant:164761.0043|UniProtKB (protein):P07949#VAR 006337
Gene symbol:Gene id. RET:5979
SO:0001583|missense variant
1
dbSNP ID 79658334
MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:ORPHA247709,SNOMED CT:6153000,SNOMED CT:61530001
Multiple endocrine neoplasia, type 2b
13945:Pathogenic
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

47217
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
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
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
UniProtKB (protein):P07949#VAR 006336
Gene symbol:Gene id. RET:5979
SO:0001583|missense variant
3
dbSNP ID 79658334
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

28985
.|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
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
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
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
SO:0001583|missense variant
1
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