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NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) AND Peroxisome biogenesis disorder 1A (Zellweger)

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 28, 2019
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:
RCV000850163.1

Allele description [Variation Report for NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)]

NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)

Gene:
PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)
HGVS:
  • NC_000007.13:g.92134156_92134157insTCCACACTG
  • NC_000007.14:g.92504843_92504851dup
  • NG_008341.2:g.28681_28689dup
  • NM_000466.3:c.1952_1960dupMANE SELECT
  • NM_001282677.2:c.1900+1397_1900+1405dup
  • NM_001282678.2:c.1328_1336dup
  • NP_000457.1:p.Trp653_Met654insThrValTrp
  • NP_001269607.1:p.Trp445_Met446insThrValTrp
  • NC_000007.13:g.92134156_92134157insTCCACACTG
  • NC_000007.13:g.92134157_92134165dup
  • NC_000007.13:g.92134157_92134165dupTCCACACTG
  • NM_000466.2:c.1952_1960dupCAGTGTGGA
  • NM_000466.3:c.1952_1960dupCAGTGTGGAMANE SELECT
Links:
dbSNP: rs398123408
NCBI 1000 Genomes Browser:
rs398123408
Molecular consequence:
  • NM_000466.3:c.1952_1960dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001282678.2:c.1328_1336dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001282677.2:c.1900+1397_1900+1405dup - intron variant - [Sequence Ontology: SO:0001627]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000992356Johns Hopkins Genomics, Johns Hopkins University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Apr 28, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Johns Hopkins Genomics, Johns Hopkins University, SCV000992356.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024