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NM_000232.4(SGCB):c.31C>T (p.Gln11Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jul 4, 2021)
Last evaluated:
Mar 1, 2021
Accession:
VCV000284502.7
Variation ID:
284502
Description:
single nucleotide variant
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NM_000232.4(SGCB):c.31C>T (p.Gln11Ter)

Allele ID
268739
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q12
Genomic location
4: 52038229 (GRCh38) GRCh38 UCSC
4: 52904395 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.52904395G>A
NC_000004.12:g.52038229G>A
NM_000232.4:c.31C>T NP_000223.1:p.Gln11Ter nonsense
... more HGVS
Protein change
Q11*
Other names
-
Canonical SPDI
NC_000004.12:52038228:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00007
Links
ClinGen: CA10604818
dbSNP: rs752492870
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Mar 1, 2021 RCV000315588.3
Likely pathogenic 1 criteria provided, single submitter Jun 14, 2016 RCV000353900.1
Likely pathogenic 1 criteria provided, single submitter Sep 27, 2016 RCV000778733.1
Pathogenic 1 criteria provided, single submitter Jul 4, 2020 RCV000808980.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SGCB - - GRCh38
GRCh37
309 324

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 05, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000337151.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(Sep 27, 2016)
criteria provided, single submitter
Method: clinical testing
Beta-sarcoglycanopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000915091.1
Submitted: (Feb 01, 2019)
Evidence details
Comment:
The SGCB c.31C>T (p.Gln11Ter) variant is a stop-gained variant that is predicted to result in premature termination of the protein. This variant has been described … (more)
Pathogenic
(Mar 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001502459.2
Submitted: (Jul 04, 2021)
Evidence details
Likely pathogenic
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Limb-Girdle Muscular Dystrophy, Recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000449674.2
Submitted: (Oct 18, 2016)
Evidence details
Publications
PubMed (6)
Comment:
The c.31C>T (p.Gln11Ter) variant is a stop-gained variant that has been described in four studies, in which it is found in a compound heterozygous state … (more)
Pathogenic
(Jul 04, 2020)
criteria provided, single submitter
Method: clinical testing
Autosomal recessive limb-girdle muscular dystrophy type 2E
Allele origin: germline
Invitae
Accession: SCV000949114.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change creates a premature translational stop signal (p.Gln11*) in the SGCB gene. It is expected to result in an absent or disrupted protein … (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
Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T. Khadilkar SV Neurology India 2009 PMID: 19770540
Revised spectrum of mutations in sarcoglycanopathies. Trabelsi M European journal of human genetics : EJHG 2008 PMID: 18285821
Beta-sarcoglycan gene mutations in Turkey. Balci B Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2004 PMID: 15938573
Limb girdle muscular dystrophy: use of dHPLC and direct sequencing to detect sarcoglycan gene mutations in a New Zealand cohort. Love DR Clinical genetics 2004 PMID: 15032976
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. Ginjaar HB Journal of neurology 2000 PMID: 10993494
Mutations in the sarcoglycan genes in patients with myopathy. Duggan DJ The New England journal of medicine 1997 PMID: 9032047
Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Bönnemann CG Nature genetics 1995 PMID: 7581449
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SGCB - - - -

Text-mined citations for rs752492870...

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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 Jul 10, 2021