NM_031229.4(RBCK1):c.1108_1109insT (p.His370fs) AND Polyglucosan body myopathy type 1

Germline classification:: Likely pathogenic (1 submission)
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:: RCV003234840.1

Allele description [Variation Report for NM_031229.4(RBCK1):c.1108_1109insT (p.His370fs)]

NM_031229.4(RBCK1):c.1108_1109insT (p.His370fs)

Gene:

RBCK1:RANBP2-type and C3HC4-type zinc finger containing 1 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

20p13

Genomic location:

Preferred name:

NM_031229.4(RBCK1):c.1108_1109insT (p.His370fs)

HGVS:

NC_000020.11:g.427391_427392insT
NG_033233.1:g.24327_24328insT
NM_001323956.2:c.598_599insT
NM_001323958.2:c.598_599insT
NM_001410770.1:c.1159_1160insT
NM_006462.6:c.982_983insT
NM_031229.4:c.1108_1109insTMANE SELECT
NP_001310885.1:p.His200fs
NP_001310887.1:p.His200fs
NP_001397699.1:p.His387fs
NP_006453.1:p.His328fs
NP_112506.2:p.His370fs
LRG_728t1:c.1108_1109insT
LRG_728:g.24327_24328insT
LRG_728p1:p.His370fs
NC_000020.10:g.408035_408036insT
NM_001323956.1:c.598_599insT
NR_136659.2:n.1542_1543insT

Protein change:

H200fs

Molecular consequence:

NM_001323956.2:c.598_599insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001323958.2:c.598_599insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001410770.1:c.1159_1160insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006462.6:c.982_983insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_031229.4:c.1108_1109insT - frameshift variant - [Sequence Ontology: SO:0001589]
NR_136659.2:n.1542_1543insT - 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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PHD finger protein 20 isoform X1 [Mus musculus]
PHD finger protein 20 isoform X1 [Mus musculus]
gi|1039760378|ref|XP_017173316.1|

Protein
PREDICTED: Mus musculus PHD finger protein 20 (Phf20), transcript variant X4, mR...
PREDICTED: Mus musculus PHD finger protein 20 (Phf20), transcript variant X4, mRNA
gi|1907138988|ref|XM_036161514.1|

Nucleotide
PREDICTED: Mus musculus PHD finger protein 20 (Phf20), transcript variant X9, mR...
PREDICTED: Mus musculus PHD finger protein 20 (Phf20), transcript variant X9, mRNA
gi|1907138999|ref|XM_036161524.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003932688	Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003932688

Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	research

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 Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences, SCV003932688.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 24, 2023

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