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NM_031229.4(RBCK1):c.724_727dup (p.Glu243fs) AND Polyglucosan body myopathy type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 24, 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:
RCV002477341.8

Allele description [Variation Report for NM_031229.4(RBCK1):c.724_727dup (p.Glu243fs)]

NM_031229.4(RBCK1):c.724_727dup (p.Glu243fs)

Gene:
RBCK1:RANBP2-type and C3HC4-type zinc finger containing 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
20p13
Genomic location:
Preferred name:
NM_031229.4(RBCK1):c.724_727dup (p.Glu243fs)
HGVS:
  • NC_000020.11:g.419695GGCG[3]
  • NG_033233.1:g.16631GGCG[3]
  • NM_001323956.2:c.375_378dup
  • NM_001323958.2:c.375_378dup
  • NM_006462.6:c.598_601dup
  • NM_031229.4:c.724_727dupMANE SELECT
  • NP_001310885.1:p.Arg127fs
  • NP_001310887.1:p.Arg127fs
  • NP_006453.1:p.Glu201fs
  • NP_112506.2:p.Glu243fs
  • LRG_728t1:c.724_727dup
  • LRG_728:g.16631GGCG[3]
  • LRG_728p1:p.Glu243fs
  • NC_000020.10:g.400339GGCG[3]
  • NM_031229.2:c.724_727dup
  • NR_136659.2:n.1179GGCG[3]
Protein change:
E201fs
Links:
OMIM: 610924.0006; dbSNP: rs730880329
NCBI 1000 Genomes Browser:
rs730880329
Molecular consequence:
  • NM_001323956.2:c.375_378dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323958.2:c.375_378dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006462.6:c.598_601dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_031229.4:c.724_727dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_136659.2:n.1179GGCG[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Polyglucosan body myopathy type 1 (PGBM1)
Synonyms:
Polyglucosan body myopathy 1 with or without immunodeficiency; POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY
Identifiers:
MONDO: MONDO:0014389; MedGen: C4014605; Orphanet: 329173; Orphanet: 397937; OMIM: 615895

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002782041Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 24, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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 Fulgent Genetics, Fulgent Genetics, SCV002782041.1

#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: Apr 20, 2024