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NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer) AND Autosomal recessive limb-girdle muscular dystrophy type 2E

Germline classification:
Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:
Feb 10, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000410084.9

Allele description [Variation Report for NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer)]

NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer)

Gene:
SGCB:sarcoglycan beta [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer)
HGVS:
  • NC_000004.12:g.52028800_52028801del
  • NG_008891.1:g.14520_14521del
  • NM_000232.5:c.551_552delMANE SELECT
  • NP_000223.1:p.Asp183_Tyr184insTer
  • LRG_204:g.14520_14521del
  • NC_000004.11:g.52894965_52894966del
  • NC_000004.11:g.52894966_52894967del
  • NM_000232.4:c.551_552delAT
Links:
dbSNP: rs1057517051
NCBI 1000 Genomes Browser:
rs1057517051
Molecular consequence:
  • NM_000232.5:c.551_552del - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000486671Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))
Likely pathogenic
(Jul 19, 2016)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf,

Citation Link,

SCV001584019Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Mar 8, 2022)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV005056703Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Feb 10, 2024)
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 providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Beta-sarcoglycan gene mutations in Turkey.

Balci B, Wilichowski E, Haliloğlu G, Talim B, Aurino S, Kremer E, Ebinger F, Senbil N, Anlar B, Kale G, Nigro V, Topaloğlu H, Bonnemann C, Dinçer P.

Acta Myol. 2004 Dec;23(3):154-8.

PubMed [citation]
PMID:
15938573

Revised spectrum of mutations in sarcoglycanopathies.

Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, Llense S, Barbot JC, Vasson A, Kaplan JC, Leturcq F, Chelly J.

Eur J Hum Genet. 2008 Jul;16(7):793-803. doi: 10.1038/ejhg.2008.9. Epub 2008 Feb 20.

PubMed [citation]
PMID:
18285821
See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000486671.2

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

From Invitae, SCV001584019.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr184*) in the SGCB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCB are known to be pathogenic (PMID: 15938573, 18285821). This premature translational stop signal has been observed in individuals with limb-girdle muscular dystrophy (PMID: 25862795). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371156).

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

From Baylor Genetics, SCV005056703.1

#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: Jun 17, 2024