NM_000203.5(IDUA):c.826G>A (p.Glu276Lys) AND IDUA-related core myopathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2024
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:: RCV004587627.1

Allele description [Variation Report for NM_000203.5(IDUA):c.826G>A (p.Glu276Lys)]

NM_000203.5(IDUA):c.826G>A (p.Glu276Lys)

Gene:

IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

Preferred name:

NM_000203.5(IDUA):c.826G>A (p.Glu276Lys)

HGVS:

NC_000004.12:g.1002015G>A
NG_008103.1:g.20019G>A
NM_000203.5:c.826G>AMANE SELECT
NM_001363576.1:c.430G>A
NP_000194.2:p.Glu276Lys
NP_001350505.1:p.Glu144Lys
LRG_1277t1:c.826G>A
LRG_1277:g.20019G>A
LRG_1277p1:p.Glu276Lys
NC_000004.11:g.995803G>A
NR_110313.1:n.914G>A

Protein change:

E144K

Molecular consequence:

NM_000203.5:c.826G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001363576.1:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_110313.1:n.914G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: IDUA-related core myopathy
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005038565	Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 1, 2024)	biparental	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005038565

Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 1, 2024)

biparental

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	biparental	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 Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire, SCV005038565.1

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

Description

PS1+PS3+PM1+PM2+PP1+PP3+PP4+PP5

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

Last Updated: Sep 1, 2024

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Relating variation to medicine