NM_022361.5(POPDC3):c.782G>A (p.Arg261Gln) AND Muscular dystrophy, limb-girdle, autosomal recessive 26

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 21, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001078197.2

Allele description [Variation Report for NM_022361.5(POPDC3):c.782G>A (p.Arg261Gln)]

NM_022361.5(POPDC3):c.782G>A (p.Arg261Gln)

Genes:

BVES-AS1:BVES antisense RNA 1 [Gene - HGNC]
POPDC3:popeye domain containing 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q21

Genomic location:

Preferred name:

NM_022361.5(POPDC3):c.782G>A (p.Arg261Gln)

HGVS:

NC_000006.12:g.105158564C>T
NM_022361.5:c.782G>AMANE SELECT
NP_071756.2:p.Arg261Gln
NC_000006.11:g.105606439C>T
NR_024539.1:n.725G>A

Protein change:

R261Q; ARG261GLN

Links:

OMIM: 605824.0001; dbSNP: rs1437210856

NCBI 1000 Genomes Browser:

rs1437210856

Molecular consequence:

NM_022361.5:c.782G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_024539.1:n.725G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Muscular dystrophy, limb-girdle, autosomal recessive 26
Identifiers:: MONDO: MONDO:0030014; MedGen: C5394268; OMIM: 618848

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001244282	OMIM	no assertion criteria provided	Pathogenic (Apr 21, 2020)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001244282

OMIM

no assertion criteria provided

Pathogenic
(Apr 21, 2020)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.

Vissing J, Johnson K, Töpf A, Nafissi S, Díaz-Manera J, French VM, Schindler RF, Sarathchandra P, Løkken N, Rinné S, Freund M, Decher N, Müller T, Duno M, Krag T, Brand T, Straub V.

Ann Neurol. 2019 Dec;86(6):832-843. doi: 10.1002/ana.25620. Epub 2019 Oct 28.

PubMed [citation]

PMID:: 31610034

Details of each submission

From OMIM, SCV001244282.1

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

Description

In 2 adult sibs, born of consanguineous Danish parents (family 1), with autosomal recessive limb-girdle muscular dystrophy-26 (LGMDR26; 618848), Vissing et al. (2019) identified a homozygous c.782G-A transition in the POPDC3 gene, resulting in an arg216-to-gln (R261Q) substitution at a highly conserved residue in the C-terminal domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was found at a low frequency in heterozygous state in the gnomAD database. Western blot analysis of muscle samples from both patients showed decreased levels of POPDC3 compared to controls. In vitro functional expression studies in Xenopus oocytes showed that the mutation caused a slight loss of the normal suppressive activity on the TREK1 (KCNK2; 603219) current compared to wildtype, suggesting a loss-of-function effect.

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

Last Updated: Apr 23, 2022

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