Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_003000.2(SDHB):c.80G>A (p.Arg27Gln)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 30, 2020)
Last evaluated:
Mar 5, 2020
Accession:
VCV000234049.4
Variation ID:
234049
Description:
single nucleotide variant
Help

NM_003000.2(SDHB):c.80G>A (p.Arg27Gln)

Allele ID
232187
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17044881 (GRCh38) GRCh38 UCSC
1: 17371376 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.17371376C>T
NC_000001.11:g.17044881C>T
NG_012340.1:g.14290G>A
... more HGVS
Protein change
R27Q
Other names
-
Canonical SPDI
NC_000001.11:17044880:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA089772
dbSNP: rs373976827
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 5, 2020 RCV000219487.3
Uncertain significance 1 criteria provided, single submitter Dec 3, 2018 RCV000560433.4
Pathogenic 1 no assertion criteria provided - RCV000505281.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 05, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000278537.5
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.R27Q variant (also known as c.80G>A), located in coding exon 2 of the SDHB gene, results from a G to A substitution at nucleotide … (more)
Uncertain significance
(Dec 03, 2018)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stroma tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000630733.4
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces arginine with glutamine at codon 27 of the SDHB protein (p.Arg27Gln). The arginine residue is highly conserved and there is a … (more)
Pathogenic
(-)
no assertion criteria provided
Method: research
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Allele origin: germline
Section on Medical Neuroendocrinolgy,National Institutes of Health
Accession: SCV000599489.1
Submitted: (Jul 10, 2017)
Evidence details

Functional evidence

Help
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

Help
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
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. Dénes J The Journal of clinical endocrinology and metabolism 2015 PMID: 25494863

Text-mined citations for rs373976827...

Help
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