NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) AND Peroxisome biogenesis disorder 3A

Clinical significance:Pathogenic (Last evaluated: Mar 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000819199.3

Allele description [Variation Report for NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)]

NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)

Gene:
PEX12:peroxisomal biogenesis factor 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)
HGVS:
  • NC_000017.11:g.35577093G>A
  • NG_008447.1:g.6545C>T
  • NM_000286.3:c.625C>TMANE SELECT
  • NP_000277.1:p.Gln209Ter
  • NC_000017.10:g.33904112G>A
  • NM_000286.2:c.625C>T
Protein change:
Q209*
Links:
dbSNP: rs61752106
NCBI 1000 Genomes Browser:
rs61752106
Molecular consequence:
  • NM_000286.3:c.625C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Peroxisome biogenesis disorder 3A (PBD3A)
Synonyms:
PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER)
Identifiers:
MONDO: MONDO:0013927; MedGen: C3553929; Orphanet: 912; OMIM: 614859

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000959846Invitaecriteria provided, single submitter
Pathogenic
(Mar 3, 2020)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.

Gootjes J, Schmohl F, Waterham HR, Wanders RJ.

Eur J Hum Genet. 2004 Feb;12(2):115-20.

PubMed [citation]
PMID:
14571262

Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.

Chang CC, Lee WH, Moser H, Valle D, Gould SJ.

Nat Genet. 1997 Apr;15(4):385-8.

PubMed [citation]
PMID:
9090384
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV000959846.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change creates a premature translational stop signal (p.Gln209*) in the PEX12 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs61752106, ExAC 0.02%). This variant has been observed in combination with another PEX12 variant in an individual affected with Zellweger syndrome spectrum (PMID: 14571262). ClinVar contains an entry for this variant (Variation ID: 555548). Loss-of-function variants in PEX12 are known to be pathogenic (PMID: 9090384, 9632816, 21031596). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Nov 27, 2021

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