View genomic variant #0000026902

Variant on transcripts

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Affects function: The variant's effect on the protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect not classified.

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Gene	Transcript ID	Transcript	Variant ID	Affects function

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ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV002100878; RCV002409501;
Chromosome	1:17380497..17380497
ClinVar Allele ID	1629002
Disease database name and identifier	Human Phenotype Ontology:HP:0100723, MONDO:MONDO:0011719, MeSH:D046152, MedGen:C0238198, OMIM:606764, Orphanet:44890|MONDO:MONDO:0007273, MedGen:C1861848, OMIM:115310, Orphanet:29072|Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162
ClinVar preferred disease name	Gastrointestinal stroma tumor|Paragangliomas 4|Pheochromocytoma|Hereditary cancer-predisposing syndrome
HGVS variant names	NC 000001.10:g.17380497G>C
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Likely benign
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Gene symbol:Gene id.	SDHB:6390
Molecular consequence	SO:0001819|synonymous variant
Allele origin	germline
dbSNP ID	2746462
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV001387810;
Chromosome	1:17380497..17380498
ClinVar Allele ID	1058477
Disease database name and identifier	MONDO:MONDO:0007273, MedGen:C1861848, OMIM:115310, Orphanet:29072|Human Phenotype Ontology:HP:0100723, MONDO:MONDO:0011719, MeSH:D046152, MedGen:C0238198, OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072
ClinVar preferred disease name	Paragangliomas 4|Gastrointestinal stroma tumor|Pheochromocytoma
HGVS variant names	NC 000001.10:g.17380499 17380500insAACCGGCGCCTCAAGGAGAGTGC
ClinVar review status	criteria provided, single submitter
Clinical Significance	Pathogenic
Variant type	Insertion
Sequence Ontology for variant type	SO:0000667
Gene symbol:Gene id.	SDHB:6390
Molecular consequence	SO:0001589|frameshift variant
Allele origin	germline
dbSNP ID	2101551903
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000037717; RCV000162442; RCV000262815; RCV000329603; RCV001523554; RCV001705677; RCV001807013; RCV001807010; RCV001807012; RCV001807011;
Chromosome	1:17380497..17380497
Allele frequencies from ESP	0.95147
Allele frequencies from TGP	0.95707
ClinVar Allele ID	53808
Disease database name and identifier	MONDO:MONDO:0030974, MedGen:C5543176, OMIM:619224|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072|MONDO:MONDO:0007273, MedGen:C1861848, OMIM:115310, Orphanet:29072|Human Phenotype Ontology:HP:0100723, MONDO:MONDO:0011719, MeSH:D046152, MedGen:C0238198, OMIM:606764, Orphanet:44890|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0017366, MedGen:C1708353, Orphanet:29072|MONDO:MONDO:0011740, MedGen:C1847319, OMIM:606864, Orphanet:97286
ClinVar preferred disease name	Mitochondrial complex 2 deficiency, nuclear type 4|Hereditary cancer-predisposing syndrome|Pheochromocytoma|Paragangliomas 4|Gastrointestinal stroma tumor|not specified|not provided|Hereditary pheochromocytoma-paraganglioma|Carney-Stratakis syndrome
HGVS variant names	NC 000001.10:g.17380497G>T
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Benign
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	ClinGen:CA015571
Gene symbol:Gene id.	SDHB:6390
Molecular consequence	SO:0001819|synonymous variant
Allele origin	germline
dbSNP ID	2746462
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV003060662;
Chromosome	1:17380497..17380498
ClinVar Allele ID	1875779
Disease database name and identifier	Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072|MONDO:MONDO:0007273, MedGen:C1861848, OMIM:115310, Orphanet:29072|Human Phenotype Ontology:HP:0100723, MONDO:MONDO:0011719, MeSH:D046152, MedGen:C0238198, OMIM:606764, Orphanet:44890
ClinVar preferred disease name	Pheochromocytoma|Paragangliomas 4|Gastrointestinal stroma tumor
HGVS variant names	NC 000001.10:g.17380497 17380498delinsTA
ClinVar review status	criteria provided, single submitter
Clinical Significance	Uncertain significance
Variant type	Indel
Sequence Ontology for variant type	SO:1000032
Gene symbol:Gene id.	SDHB:6390
Molecular consequence	SO:0001583|missense variant
Allele origin	germline
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV001012311;
Chromosome	1:17380497..17380499
ClinVar Allele ID	806509
Disease database name and identifier	MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162
ClinVar preferred disease name	Hereditary cancer-predisposing syndrome
HGVS variant names	NC 000001.10:g.17380497 17380499delinsTGA
ClinVar review status	criteria provided, single submitter
Clinical Significance	Uncertain significance
Variant type	Indel
Sequence Ontology for variant type	SO:1000032
Gene symbol:Gene id.	SDHB:6390
Molecular consequence	SO:0001583|missense variant
Allele origin	germline
dbSNP ID	1570963601
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV003377775;
Chromosome	1:17380497..17380499
ClinVar Allele ID	2790591
Disease database name and identifier	MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162
ClinVar preferred disease name	Hereditary cancer-predisposing syndrome
HGVS variant names	NC 000001.10:g.17380497 17380499delinsTGT
ClinVar review status	criteria provided, single submitter
Clinical Significance	Uncertain significance
Variant type	Indel
Sequence Ontology for variant type	SO:1000032
Gene symbol:Gene id.	SDHB:6390
Molecular consequence	SO:0001583|missense variant
Allele origin	germline
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None