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NM_003000.3(SDHB):c.527A>G (p.Glu176Gly)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 20, 2021)
Last evaluated:
Sep 1, 2020
Accession:
VCV000459153.9
Variation ID:
459153
Description:
single nucleotide variant
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NM_003000.3(SDHB):c.527A>G (p.Glu176Gly)

Allele ID
447397
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17027762 (GRCh38) GRCh38 UCSC
1: 17354257 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_316:g.31409A>G
LRG_316t1:c.527A>G LRG_316p1:p.Glu176Gly
NC_000001.10:g.17354257T>C
... more HGVS
Protein change
E176G
Other names
-
Canonical SPDI
NC_000001.11:17027761:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA089639
dbSNP: rs201082445
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 May 20, 2020 RCV000557702.5
Uncertain significance 1 criteria provided, single submitter Nov 9, 2018 RCV001023850.1
Uncertain significance 1 criteria provided, single submitter Sep 1, 2020 RCV001577591.3
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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
(May 20, 2020)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000630713.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glutamic acid with glycine at codon 176 of the SDHB protein (p.Glu176Gly). The glutamic acid residue is weakly conserved and there … (more)
Uncertain significance
(Nov 09, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001185782.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.E176G variant (also known as c.527A>G), located in coding exon 5 of the SDHB gene, results from an A to G substitution at nucleotide … (more)
Uncertain significance
(Sep 01, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001804994.1
Submitted: (Aug 20, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on … (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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs201082445...

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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 24, 2021