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NM_003000.2(SDHB):c.602G>A (p.Trp201Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 14, 2017)
Last evaluated:
Nov 2, 2016
Accession:
VCV000412470.1
Variation ID:
412470
Description:
single nucleotide variant
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NM_003000.2(SDHB):c.602G>A (p.Trp201Ter)

Allele ID
390910
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17024013 (GRCh38) GRCh38 UCSC
1: 17350508 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_316:g.35158G>A
NC_000001.10:g.17350508C>T
NC_000001.11:g.17024013C>T
... more HGVS
Protein change
W201*
Other names
-
Canonical SPDI
NC_000001.11:17024012:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16609931
dbSNP: rs1060503759
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 2, 2016 RCV000458792.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SDHB Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
789 819

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 02, 2016)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000554004.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change creates a premature translational stop signal at codon 201 (p.Trp201*) of the SDHB gene. It is expected to result in an absent … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1060503759...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021