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NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 12, 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:
RCV003480024.1

Allele description [Variation Report for NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)]

NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)

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.1991T>C (p.Leu664Pro)
HGVS:
  • NC_000007.14:g.92504812A>G
  • NG_008341.2:g.28720T>C
  • NM_000466.3:c.1991T>CMANE SELECT
  • NM_001282677.2:c.1900+1436T>C
  • NM_001282678.2:c.1367T>C
  • NP_000457.1:p.Leu664Pro
  • NP_001269607.1:p.Leu456Pro
  • NC_000007.13:g.92134126A>G
  • NG_008341.1:g.28720T>C
  • NM_000466.2:c.1991T>C
  • O43933:p.Leu664Pro
Protein change:
L456P; LEU664PRO
Links:
UniProtKB: O43933#VAR_008876; OMIM: 602136.0002; dbSNP: rs121434455
NCBI 1000 Genomes Browser:
rs121434455
Molecular consequence:
  • NM_001282677.2:c.1900+1436T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000466.3:c.1991T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282678.2:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004227040Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Apr 12, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.

Tamura S, Matsumoto N, Imamura A, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y.

Biochem J. 2001 Jul 15;357(Pt 2):417-26.

PubMed [citation]
PMID:
11439091
PMCID:
PMC1221968

A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review.

Lu P, Ma L, Sun J, Gong X, Cai C.

Transl Pediatr. 2021 Feb;10(2):446-453. doi: 10.21037/tp-20-167.

PubMed [citation]
PMID:
33708531
PMCID:
PMC7944177
See all PubMed Citations (4)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV004227040.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

PP3, PM2, PS3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024