NM_003900.5(SQSTM1):c.934_936delinsTGA (p.Arg312Ter) AND Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 7, 2022
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:: RCV001815053.2

Allele description [Variation Report for NM_003900.5(SQSTM1):c.934_936delinsTGA (p.Arg312Ter)]

NM_003900.5(SQSTM1):c.934_936delinsTGA (p.Arg312Ter)

Gene:

SQSTM1:sequestosome 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

5q35.3

Genomic location:

Preferred name:

NM_003900.5(SQSTM1):c.934_936delinsTGA (p.Arg312Ter)

HGVS:

NC_000005.10:g.179833211_179833213delinsTGA
NG_011342.1:g.31824_31826delinsTGA
NM_001142298.2:c.682_684delinsTGA
NM_001142299.2:c.682_684delinsTGA
NM_003900.5:c.934_936delinsTGAMANE SELECT
NP_001135770.1:p.Arg228Ter
NP_001135771.1:p.Arg228Ter
NP_003891.1:p.Arg312Ter
NC_000005.9:g.179260211_179260213delinsTGA
NM_003900.4:c.934_936delinsTGA

Protein change:

R228*; ARG312TER

Links:

OMIM: 601530.0012; dbSNP: rs1554091355

NCBI 1000 Genomes Browser:

rs1554091355

Molecular consequence:

NM_001142298.2:c.682_684delinsTGA - nonsense - [Sequence Ontology: SO:0001587]
NM_001142299.2:c.682_684delinsTGA - nonsense - [Sequence Ontology: SO:0001587]
NM_003900.5:c.934_936delinsTGA - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset (NADGP)
Identifiers:: MONDO: MONDO:0014940; MedGen: C4310693; OMIM: 617145

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Invertebrate sample from Ennucula tenuis
Invertebrate sample from Ennucula tenuis

biosample
10C-St8-MC-01_bin.6.orig
10C-St8-MC-01_bin.6.orig

biosample
Metagenome or environmental sample from chicken gut metagenome
Metagenome or environmental sample from chicken gut metagenome

biosample
kappa-type opioid receptor isoform 1 [Homo sapiens]
kappa-type opioid receptor isoform 1 [Homo sapiens]
gi|39725940|ref|NP_000903.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002061893	OMIM	no assertion criteria provided	Pathogenic (Apr 7, 2022)	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

SCV002061893

OMIM

no assertion criteria provided

Pathogenic
(Apr 7, 2022)

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

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.

Muto V, Flex E, Kupchinsky Z, Primiano G, Galehdari H, Dehghani M, Cecchetti S, Carpentieri G, Rizza T, Mazaheri N, Sedaghat A, Vahidi Mehrjardi MY, Traversa A, Di Nottia M, Kousi MM, Jamshidi Y, Ciolfi A, Caputo V, Malamiri RA, Pantaleoni F, Martinelli S, Jeffries AR, et al.

Neurology. 2018 Jul 24;91(4):e319-e330. doi: 10.1212/WNL.0000000000005869. Epub 2018 Jun 29.

PubMed [citation]

PMID:: 29959261
PMCID:: PMC6070386

Details of each submission

From OMIM, SCV002061893.2

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

Description

In 2 sibs, born of consanguineous Iranian parents (family 2), with childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy (NADGP; 617145), Muto et al. (2018) identified homozygosity for a c.934_936delinsTGA mutation (c.934_936delinsTGA, NM_003900.4) in the SQSTM1 gene, predicted to result in an arg312-to-ter (R312X) substitution. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family.

#	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: Dec 24, 2023

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