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NM_000466.3(PEX1):c.724G>A (p.Val242Ile) AND Peroxisome biogenesis disorder 1A (Zellweger)

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV001159300.4

Allele description [Variation Report for NM_000466.3(PEX1):c.724G>A (p.Val242Ile)]

NM_000466.3(PEX1):c.724G>A (p.Val242Ile)

Gene:
PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_000466.3(PEX1):c.724G>A (p.Val242Ile)
HGVS:
  • NC_000007.14:g.92517791C>T
  • NG_008341.2:g.15741G>A
  • NM_000466.3:c.724G>AMANE SELECT
  • NM_001282677.2:c.724G>A
  • NM_001282678.2:c.100G>A
  • NP_000457.1:p.Val242Ile
  • NP_001269606.1:p.Val242Ile
  • NP_001269607.1:p.Val34Ile
  • NC_000007.13:g.92147105C>T
  • NC_000007.13:g.92147105C>T
  • NG_008341.1:g.15741G>A
  • NM_000466.2:c.724G>A
Protein change:
V242I
Links:
dbSNP: rs764044654
NCBI 1000 Genomes Browser:
rs764044654
Molecular consequence:
  • NM_000466.3:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282677.2:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282678.2:c.100G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Peroxisome biogenesis disorder 1A (Zellweger) (PBD1A)
Synonyms:
Zellweger leukodystrophy; Peroxisome biogenesis disorder 1a
Identifiers:
MONDO: MONDO:0008953; MedGen: C4721541; OMIM: 214100

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001321002Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 27, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.

Thoms S, Grønborg S, Rabenau J, Ohlenbusch A, Rosewich H, Gärtner J.

BMC Med Genet. 2011 Aug 16;12:109. doi: 10.1186/1471-2350-12-109.

PubMed [citation]
PMID:
21846392
PMCID:
PMC3167756

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001321002.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Sep 29, 2024