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NM_000232.5(SGCB):c.243+3_243+6del AND Autosomal recessive limb-girdle muscular dystrophy type 2E

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Jul 10, 2022
Review status:
criteria provided, conflicting classifications
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:
RCV000670539.4

Allele description [Variation Report for NM_000232.5(SGCB):c.243+3_243+6del]

NM_000232.5(SGCB):c.243+3_243+6del

Gene:
SGCB:sarcoglycan beta [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000232.5(SGCB):c.243+3_243+6del
HGVS:
  • NC_000004.12:g.52033428_52033431del
  • NG_008891.1:g.9892_9895del
  • NM_000232.5:c.243+3_243+6delMANE SELECT
  • LRG_204:g.9892_9895del
  • NC_000004.11:g.52899594_52899597del
  • NM_000232.4:c.243+3_243+6delGAGT
Links:
OMIM: 600900.0009; dbSNP: rs1553940660
NCBI 1000 Genomes Browser:
rs1553940660
Molecular consequence:
  • NM_000232.5:c.243+3_243+6del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000029476OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 2000)
germlineliterature only

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

SCV000795401Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Uncertain significance
(Nov 7, 2017)
unknownclinical testing

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

Citation Link,

SCV004201015Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Jul 10, 2022)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations.

Barresi R, Di Blasi C, Negri T, Brugnoni R, Vitali A, Felisari G, Salandi A, Daniel S, Cornelio F, Morandi L, Mora M.

J Med Genet. 2000 Feb;37(2):102-7.

PubMed [citation]
PMID:
10662809
PMCID:
PMC1734518

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, SCV000029476.4

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

Description

For discussion of the 4-bp deletion in the SGCB gene (243+3delGAGT) that was found in compound heterozygous state in a patient with limb-girdle muscular dystrophy type 2E (LGMDR4; 604286) by Barresi et al. (2000), see 600900.0003.

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

From Counsyl, SCV000795401.1

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

From Baylor Genetics, SCV004201015.1

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

Last Updated: Feb 4, 2024