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NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) AND PEX26-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 9, 2024
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:
RCV003390634.5

Allele description [Variation Report for NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)]

NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)

Gene:
PEX26:peroxisomal biogenesis factor 26 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)
HGVS:
  • NC_000022.11:g.18079935C>T
  • NG_008339.1:g.7016C>T
  • NM_001127649.3:c.292C>TMANE SELECT
  • NM_001199319.2:c.292C>T
  • NM_017929.6:c.292C>T
  • NP_001121121.1:p.Arg98Trp
  • NP_001186248.1:p.Arg98Trp
  • NP_060399.1:p.Arg98Trp
  • NC_000022.10:g.18562701C>T
  • NM_017929.5:c.292C>T
  • NM_017929.6:c.292C>T
  • Q7Z412:p.Arg98Trp
Protein change:
R98W; ARG98TRP
Links:
UniProtKB: Q7Z412#VAR_018649; OMIM: 608666.0001; dbSNP: rs62641228
NCBI 1000 Genomes Browser:
rs62641228
Molecular consequence:
  • NM_001127649.3:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199319.2:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017929.6:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
PEX26-related disorder
Synonyms:
PEX26-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004119503PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Sep 9, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004119503.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The PEX26 c.292C>T variant is predicted to result in the amino acid substitution p.Arg98Trp. This variant has been reported as pathogenic for autosomal recessive peroxisome biogenesis disorder, and in the homozygous state the milder infantile Refsum disease (Matsumoto et al. 2003. PubMed ID: 12851857; Furuki et al. 2005. PubMed ID: 16257970; Berendse et al. 2015. PubMed ID: 26287655; Neuhaus et al. 2017. PubMed ID: 28944237). This variant is reported in 0.013% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024