NM_000232.4(SGCB):c.31C>T (p.Gln11Ter) AND Limb-Girdle Muscular Dystrophy, Recessive

Clinical significance:Likely pathogenic (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000353900.1

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:
Limb-Girdle Muscular Dystrophy, Recessive
Identifiers:
MedGen: CN239352

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000449674Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely pathogenic
(Jun 14, 2016)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in the sarcoglycan genes in patients with myopathy.

Duggan DJ, Gorospe JR, Fanin M, Hoffman EP, Angelini C.

N Engl J Med. 1997 Feb 27;336(9):618-24.

PubMed [citation]
PMID:
9032047

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy.

Ginjaar HB, van der Kooi AJ, Ceelie H, Kneppers AL, van Meegen M, Barth PG, Busch HF, Wokke JH, Anderson LV, Bönnemann CG, Jeanpierre M, Bolhuis PA, Moorman AF, de Visser M, Bakker E, Ommen GJ.

J Neurol. 2000 Jul;247(7):524-9.

PubMed [citation]
PMID:
10993494
See all PubMed Citations (6)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000449674.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

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 in four limb-girdle muscular dystrophy patients (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 potential impact of stop-gained variants and evidence from the literature the p.Gln11Ter variant is classified as likely pathogenic for recessive limb-girdle muscular dystrophy.

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

Last Updated: Jul 10, 2021

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