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NM_000466.3(PEX1):c.1842del (p.Glu615fs) AND Peroxisome biogenesis disorder 1A (Zellweger)

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 26, 2016
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:
RCV000410765.2

Allele description [Variation Report for NM_000466.3(PEX1):c.1842del (p.Glu615fs)]

NM_000466.3(PEX1):c.1842del (p.Glu615fs)

Gene:
PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_000466.3(PEX1):c.1842del (p.Glu615fs)
HGVS:
  • NC_000007.14:g.92506308del
  • NG_008341.2:g.27226del
  • NM_000466.3:c.1842delMANE SELECT
  • NM_001282677.2:c.1842del
  • NM_001282678.2:c.1218del
  • NP_000457.1:p.Glu615fs
  • NP_001269606.1:p.Glu615fs
  • NP_001269607.1:p.Glu407fs
  • NC_000007.13:g.92135620del
  • NC_000007.13:g.92135622del
  • NG_008341.1:g.27226del
  • NM_000466.2:c.1842del
  • NM_000466.2:c.1842delA
Protein change:
E407fs
Links:
dbSNP: rs267608176
NCBI 1000 Genomes Browser:
rs267608176
Molecular consequence:
  • NM_000466.3:c.1842del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282677.2:c.1842del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282678.2:c.1218del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000487496Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Jan 26, 2016) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

Ebberink MS, Mooijer PA, Gootjes J, Koster J, Wanders RJ, Waterham HR.

Hum Mutat. 2011 Jan;32(1):59-69. doi: 10.1002/humu.21388.

PubMed [citation]
PMID:
21031596

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

Yik WY, Steinberg SJ, Moser AB, Moser HW, Hacia JG.

Hum Mutat. 2009 Mar;30(3):E467-80. doi: 10.1002/humu.20932.

PubMed [citation]
PMID:
19105186
PMCID:
PMC2649967

Details of each submission

From Counsyl, SCV000487496.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024