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NM_000232.5(SGCB):c.87_89del (p.Arg30del) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 5, 2022
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:
RCV002509656.1

Allele description [Variation Report for NM_000232.5(SGCB):c.87_89del (p.Arg30del)]

NM_000232.5(SGCB):c.87_89del (p.Arg30del)

Gene:
SGCB:sarcoglycan beta [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000232.5(SGCB):c.87_89del (p.Arg30del)
HGVS:
  • NC_000004.12:g.52033587_52033589del
  • NG_008891.1:g.9733_9735del
  • NM_000232.5:c.87_89delMANE SELECT
  • NP_000223.1:p.Arg30del
  • LRG_204t1:c.87_89del
  • LRG_204:g.9733_9735del
  • NC_000004.11:g.52899751_52899753del
  • NC_000004.11:g.52899753_52899755del
  • NM_000232.4:c.87_89del
Protein change:
R30del
Links:
dbSNP: rs780654411
NCBI 1000 Genomes Browser:
rs780654411
Molecular consequence:
  • NM_000232.5:c.87_89del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002819071GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Jul 5, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002819071.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported previously as a pathogenic variant on the opposite allele (in trans) with a second pathogenic variant in a patient with a neuromuscular abnormality; however, no further clinical information was provided (Marinakis et al.; 2021); Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34008892)

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

Last Updated: Mar 16, 2024