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NM_031229.4(RBCK1):c.531C>A (p.Val177=) AND Polyglucosan body myopathy type 1

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 1, 2023
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:
RCV003854936.1

Allele description

NM_031229.4(RBCK1):c.531C>A (p.Val177=)

Gene:
RBCK1:RANBP2-type and C3HC4-type zinc finger containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p13
Genomic location:
Preferred name:
NM_031229.4(RBCK1):c.531C>A (p.Val177=)
HGVS:
  • NC_000020.11:g.419417C>A
  • NG_033233.1:g.16353C>A
  • NM_001323956.2:c.182C>A
  • NM_001323958.2:c.182C>A
  • NM_001410770.1:c.582C>A
  • NM_006462.6:c.405C>A
  • NM_031229.4:c.531C>AMANE SELECT
  • NP_001310885.1:p.Ser61Tyr
  • NP_001310887.1:p.Ser61Tyr
  • NP_001397699.1:p.Val194=
  • NP_006453.1:p.Val135=
  • NP_112506.2:p.Val177=
  • LRG_728t1:c.531C>A
  • LRG_728:g.16353C>A
  • LRG_728p1:p.Val177=
  • NC_000020.10:g.400061C>A
  • NR_136659.2:n.990C>A
Protein change:
S61Y
Molecular consequence:
  • NM_001323956.2:c.182C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323958.2:c.182C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136659.2:n.990C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001410770.1:c.582C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_006462.6:c.405C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_031229.4:c.531C>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV004661526Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Dec 1, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV004661526.1

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

Last Updated: Mar 5, 2024