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NM_000232.5(SGCB):c.683G>A (p.Gly228Glu) AND Autosomal recessive limb-girdle muscular dystrophy type 2E

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 18, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004006232.1

Allele description [Variation Report for NM_000232.5(SGCB):c.683G>A (p.Gly228Glu)]

NM_000232.5(SGCB):c.683G>A (p.Gly228Glu)

Gene:
SGCB:sarcoglycan beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000232.5(SGCB):c.683G>A (p.Gly228Glu)
Other names:
G228E
HGVS:
  • NC_000004.12:g.52028038C>T
  • NG_008891.1:g.15282G>A
  • NM_000232.5:c.683G>AMANE SELECT
  • NP_000223.1:p.Gly228Glu
  • NP_000223.1:p.Gly228Glu
  • LRG_204t1:c.683G>A
  • LRG_204:g.15282G>A
  • LRG_204p1:p.Gly228Glu
  • NC_000004.11:g.52894204C>T
  • NM_000232.4:c.683G>A
Links:
dbSNP: rs1737147925
NCBI 1000 Genomes Browser:
rs1737147925
Molecular consequence:
  • NM_000232.5:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004807479Genexplore Diagnostics and Research Centre Pvt. Ltd., NA
no assertion criteria provided
Pathogenic
(Jul 18, 2018) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Genexplore Diagnostics and Research Centre Pvt. Ltd., NA, SCV004807479.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 1, 2024