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NM_003000.2(SDHB):c.642G>C (p.Gln214His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Jul 30, 2018
Accession:
VCV000438426.2
Variation ID:
438426
Description:
single nucleotide variant
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NM_003000.2(SDHB):c.642G>C (p.Gln214His)

Allele ID
432028
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17023973 (GRCh38) GRCh38 UCSC
1: 17350468 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_316:g.35198G>C
LRG_316t1:c.642G>C LRG_316p1:p.Gln214His
NC_000001.10:g.17350468C>G
... more HGVS
Protein change
Q214H
Other names
-
Canonical SPDI
NC_000001.11:17023972:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA338270924
dbSNP: rs1278834014
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 30, 2018 RCV000818248.1
Uncertain significance 1 no assertion criteria provided - RCV000505356.1
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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
Uncertain significance
(Jul 30, 2018)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stroma tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000958849.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glutamine with histidine at codon 214 of the SDHB protein (p.Gln214His). The glutamine residue is highly conserved and there is a … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: research
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Allele origin: germline
Section on Medical Neuroendocrinolgy,National Institutes of Health
Accession: SCV000599522.1
Submitted: (Jul 10, 2017)
Evidence details

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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Title Author Journal Year Link
High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing. Brouwers FM The Journal of clinical endocrinology and metabolism 2006 PMID: 16912137

Text-mined citations for rs1278834014...

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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