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NM_000318.3(PEX2):c.602C>T (p.Ala201Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 26, 2023
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:
RCV004498375.1

Allele description [Variation Report for NM_000318.3(PEX2):c.602C>T (p.Ala201Val)]

NM_000318.3(PEX2):c.602C>T (p.Ala201Val)

Gene:
PEX2:peroxisomal biogenesis factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q21.13
Genomic location:
Preferred name:
NM_000318.3(PEX2):c.602C>T (p.Ala201Val)
HGVS:
  • NC_000008.11:g.76983577G>A
  • NG_008371.1:g.21712C>T
  • NG_008371.2:g.22467C>T
  • NM_000318.3:c.602C>TMANE SELECT
  • NM_001079867.2:c.602C>T
  • NM_001172086.2:c.602C>T
  • NM_001172087.2:c.602C>T
  • NP_000309.2:p.Ala201Val
  • NP_001073336.2:p.Ala201Val
  • NP_001165557.2:p.Ala201Val
  • NP_001165558.2:p.Ala201Val
  • NC_000008.10:g.77895813G>A
  • NM_000318.2:c.602C>T
Protein change:
A201V
Molecular consequence:
  • NM_000318.3:c.602C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079867.2:c.602C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001172086.2:c.602C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001172087.2:c.602C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005002221Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 26, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005002221.1

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

Description

The c.602C>T (p.A201V) alteration is located in exon 4 (coding exon 1) of the PEX2 gene. This alteration results from a C to T substitution at nucleotide position 602, causing the alanine (A) at amino acid position 201 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024