NM_000232.4(SGCB):c.31C>T (p.Gln11Ter) AND Qualitative or quantitative defects of beta-sarcoglycan

Clinical significance:Likely pathogenic (Last evaluated: Sep 27, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000778733.1

Allele description [Variation Report for NM_000232.4(SGCB):c.31C>T (p.Gln11Ter)]

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

Gene:
SGCB:sarcoglycan beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000232.4(SGCB):c.31C>T (p.Gln11Ter)
HGVS:
  • NC_000004.12:g.52038229G>A
  • NG_008891.1:g.5091C>T
  • NM_000232.4:c.31C>T
  • NP_000223.1:p.Gln11Ter
  • LRG_204t1:c.31C>T
  • LRG_204:g.5091C>T
  • LRG_204p1:p.Gln11Ter
  • NC_000004.11:g.52904395G>A
Protein change:
Q11*
Links:
dbSNP: rs752492870
NCBI 1000 Genomes Browser:
rs752492870
Molecular consequence:
  • NM_000232.4:c.31C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Qualitative or quantitative defects of beta-sarcoglycan
Synonyms:
Beta-sarcoglycanopathy
Identifiers:
MONDO: MONDO:0016142; MedGen: C2930900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000915091Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely pathogenic
(Sep 27, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000915091.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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 in four studies, in which it is found in a compound heterozygous state in four unrelated individuals with beta-sarcoglycanopathy, or limb-girdle muscular dystrophy type 2E (Duggan et al. 1997; Ginjaar et al. 2000; Love et al. 2004; Khadilkar et al. 2009). Control data are unavailable for this variant, which is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium. Based on the evidence from the literature and the potential impact of stop-gained variants, the p.Gln11Ter variant is classified as likely pathogenic for beta-sarcoglycanopathy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 10, 2021

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