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NM_000232.5(SGCB):c.323T>G (p.Leu108Arg) AND Autosomal recessive limb-girdle muscular dystrophy type 2E

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Nov 30, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000009255.9

Allele description [Variation Report for NM_000232.5(SGCB):c.323T>G (p.Leu108Arg)]

NM_000232.5(SGCB):c.323T>G (p.Leu108Arg)

Gene:
SGCB:sarcoglycan beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg)
HGVS:
  • NC_000004.12:g.52029784A>C
  • NG_008891.1:g.13536T>G
  • NM_000232.4:c.323T>G
  • NM_000232.5:c.323T>GMANE SELECT
  • NP_000223.1:p.Leu108Arg
  • LRG_204t1:c.323T>G
  • LRG_204:g.13536T>G
  • NC_000004.11:g.52895950A>C
  • Q16585:p.Leu108Arg
Protein change:
L108R; LEU108ARG
Links:
UniProtKB: Q16585#VAR_010394; OMIM: 600900.0006; dbSNP: rs104893870
NCBI 1000 Genomes Browser:
rs104893870
Molecular consequence:
  • NM_000232.5:c.323T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2E (LGMDR4)
Synonyms:
Limb-girdle muscular dystrophy, type 2E; Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency; Beta-sarcoglycan limb-girdle muscular dystrophy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011423; MedGen: C1858593; Orphanet: 119; OMIM: 604286

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029473OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 1996)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV003827607Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Nov 30, 2023)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).

Bönnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sá Moreira E, Marie SK, Pavanello RC, Noguchi S, Ozawa E, Zatz M, Kunkel LM.

Hum Mol Genet. 1996 Dec;5(12):1953-61.

PubMed [citation]
PMID:
8968749

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From OMIM, SCV000029473.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a female patient with limb-girdle muscular dystrophy type 2E (LGMDR4; 604286), Bonnemann et al. (1996) identified a 323T-G transversion in the SGCB gene, resulting in a leu108-to-arg (L108R) substitution. She had onset of symptoms at age 7 years and lost ambulation at age 12. An affected male sib had died of muscular dystrophy at age 16 years. Only 1 mutation was identified in this family.

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

From Revvity Omics, Revvity, SCV003827607.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024