View genomic variant #0000026894

Chromosome	1
Allele	Unknown
Affects function (as reported)	Not classified
Affects function (by curator)	Not classified
Type	-
DNA change (genomic) (Relative to hg19 / GRCh37)	g.17354373_17354374insGAAGAA
Published as	-
GERP	-
Segregation	-
DB-ID	chr1_000439
MSCV	-
dbSNP ID	-
Frequency	-
Sources	;
Reference	-
Variant remarks	-
Genetic origin	-
Variant_disease	-
Average frequency (large NGS studies)	Retrieve
Owner	Lishuang Shen

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
RCVaccession	RCV003008347;
Chromosome	1:17354373..17354373
ClinVar Allele ID	2145740
Disease database name and identifier	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\|MONDO:MONDO:0007273, MedGen:C1861848, OMIM:115310, Orphanet:29072
ClinVar preferred disease name	Gastrointestinal stroma tumor\|Pheochromocytoma\|Paragangliomas 4
HGVS variant names	NC 000001.10:g.17354374del
ClinVar review status	criteria provided, single submitter
Clinical Significance	Likely benign
Variant type	Deletion
Sequence Ontology for variant type	SO:0000159
Gene symbol:Gene id.	SDHB:6390
Molecular consequence	SO:0001627\|intron variant
Allele origin	germline
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV002621287;
Chromosome 1:17354373..17354373
ClinVar Allele ID 1968883
Disease database name and identifier Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072|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
ClinVar preferred disease name Pheochromocytoma|Gastrointestinal stroma tumor|Paragangliomas 4
HGVS variant names NC 000001.10:g.17354373G>A
ClinVar review status criteria provided, single submitter
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:0001627|intron variant
Allele origin germline
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV002991426;
Chromosome 1:17354373..17354373
ClinVar Allele ID 2148492
Disease database name and identifier 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|MONDO:MONDO:0007273, MedGen:C1861848, OMIM:115310, Orphanet:29072
ClinVar preferred disease name Gastrointestinal stroma tumor|Pheochromocytoma|Paragangliomas 4
HGVS variant names NC 000001.10:g.17354373G>C
ClinVar review status criteria provided, single submitter
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:0001627|intron variant
Allele origin germline
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000037721; RCV000295494; RCV000352632; RCV002054677; RCV002257376; RCV003103724;
Chromosome 1:17354374..17354376
ClinVar Allele ID 53811
Disease database name and identifier 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:0011740, MedGen:C1847319, OMIM:606864, Orphanet:97286
ClinVar preferred disease name Hereditary cancer-predisposing syndrome|Pheochromocytoma|Paragangliomas 4|Gastrointestinal stroma tumor|not specified|not provided|Carney-Stratakis syndrome
HGVS variant names NC 000001.10:g.17354374GAA[9]
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Uncertain significance(3)|Benign(3)|Likely benign(4)
Variant type Microsatellite
Sequence Ontology for variant type SO:0000289
Variant clinical sources reported ClinGen:CA134779
Gene symbol:Gene id. SDHB:6390
Molecular consequence SO:0001627|intron variant
Allele origin germline
dbSNP ID 34261028
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000030449; RCV000248855; RCV001811222; RCV002054523; RCV002256011; RCV002496469;
Chromosome 1:17354373..17354374
ClinVar Allele ID 45431
Disease database name and identifier Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072|Human Phenotype Ontology:HP:0100723, MONDO:MONDO:0011719, MeSH:D046152, MedGen:C0238198, OMIM:606764, Orphanet:44890|MONDO:MONDO:0011740, MedGen:C1847319, OMIM:606864, Orphanet:97286|MONDO:MONDO:0007273, MedGen:C1861848, OMIM:115310, Orphanet:29072|MONDO:MONDO:0030974, MedGen:C5543176, OMIM:619224|MedGen:C3661900|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MedGen:CN169374
ClinVar preferred disease name Pheochromocytoma|Gastrointestinal stroma tumor|Carney-Stratakis syndrome|Paragangliomas 4|Mitochondrial complex 2 deficiency, nuclear type 4|not provided|Hereditary cancer-predisposing syndrome|not specified
HGVS variant names NC 000001.10:g.17354374GAA[10]
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Benign/Likely benign
Variant type Microsatellite
Sequence Ontology for variant type SO:0000289
Variant clinical sources reported ClinGen:CA260527
Gene symbol:Gene id. SDHB:6390
Molecular consequence SO:0001627|intron variant
Allele origin germline
dbSNP ID 34261028
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV002118535; RCV002259170;
Chromosome 1:17354373..17354374
ClinVar Allele ID 1596264
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|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162
ClinVar preferred disease name Paragangliomas 4|Gastrointestinal stroma tumor|Pheochromocytoma|Hereditary cancer-predisposing syndrome
HGVS variant names NC 000001.10:g.17354374GAA[11]
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Benign/Likely benign
Variant type Microsatellite
Sequence Ontology for variant type SO:0000289
Gene symbol:Gene id. SDHB:6390
Molecular consequence SO:0001627|intron variant
Allele origin germline
dbSNP ID 34261028
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV001579364; RCV002068762; RCV002268397;
Chromosome 1:17354374..17354376
ClinVar Allele ID 799146
Disease database name and identifier Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072|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|MedGen:CN169374|MedGen:C3661900
ClinVar preferred disease name Pheochromocytoma|Gastrointestinal stroma tumor|Paragangliomas 4|not specified|not provided
HGVS variant names NC 000001.10:g.17354374GAA[7]
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Benign/Likely benign
Variant type Microsatellite
Sequence Ontology for variant type SO:0000289
Gene symbol:Gene id. SDHB:6390
Molecular consequence SO:0001627|intron variant
Allele origin germline
dbSNP ID 34261028
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000243274; RCV000307606; RCV000402739; RCV001517903; RCV001580091;
Chromosome 1:17354374..17354379
ClinVar Allele ID 249531
Disease database name and identifier Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072|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|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011740, MedGen:C1847319, OMIM:606864, Orphanet:97286
ClinVar preferred disease name Pheochromocytoma|Gastrointestinal stroma tumor|Paragangliomas 4|not specified|not provided|Carney-Stratakis syndrome
HGVS variant names NC 000001.10:g.17354374GAA[6]
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Uncertain significance(2)|Benign(3)|Likely benign(2)
Variant type Microsatellite
Sequence Ontology for variant type SO:0000289
Variant clinical sources reported ClinGen:CA637817
Gene symbol:Gene id. SDHB:6390
Molecular consequence SO:0001627|intron variant
Allele origin germline
dbSNP ID 34261028
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV002177729;
Chromosome 1:17354374..17354382
ClinVar Allele ID 1657832
Disease database name and identifier Human Phenotype Ontology:HP:0002666, MONDO:MONDO:0008233, MedGen:C0031511, OMIM:171300, Orphanet:29072|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
ClinVar preferred disease name Pheochromocytoma|Gastrointestinal stroma tumor|Paragangliomas 4
HGVS variant names NC 000001.10:g.17354374GAA[5]
ClinVar review status criteria provided, single submitter
Clinical Significance Likely benign
Variant type Microsatellite
Sequence Ontology for variant type SO:0000289
Gene symbol:Gene id. SDHB:6390
Molecular consequence SO:0001627|intron variant
Allele origin germline
dbSNP ID 34261028
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