View genomic variant #0000000194

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>T
Published as -
GERP 5.360
Segregation -
DB-ID RET_000003
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
RET NM_020975.4 +/+ c.2410G>T p.(Val804Leu) missense_variant - 14/19 probably_damaging(0.999) r.(?) deleterious(0.02)


ClinVar @ MSeqDR

0.0001
0.00020
28984
.|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:C0031511,OMIM:171300|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:CN169374|MedGen:CN517202
MEN2A and FMTC|Multiple endocrine neoplasia, type 2a|Multiple endocrine neoplasia, type 2b|Hereditary cancer-predisposing syndrome|Pheochromocytoma|Congenital central hypoventilation|Renal adysplasia|Familial medullary thyroid carcinoma|Hirschsprung disease 1|Multiple endocrine neoplasia, type 2|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
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
.|MedGen:C0027662,Orphanet:ORPHA276161,SNOMED CT:46724008|MedGen:C0027672,SNOMED CT:699346009|MedGen:C1833921,OMIM:155240,Orphanet:ORPHA99361|MedGen:CN169374|MedGen:CN517202
MEN2A and FMTC|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