NM_000466.3(PEX1):c.1108del (p.Ile370fs) AND Peroxisome biogenesis disorder 1B

Clinical significance:Likely pathogenic (Last evaluated: Oct 7, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000409071.1

Allele description [Variation Report for NM_000466.3(PEX1):c.1108del (p.Ile370fs)]

NM_000466.3(PEX1):c.1108del (p.Ile370fs)

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.1108del (p.Ile370fs)
HGVS:
  • NC_000007.13:g.92146721del
  • NC_000007.14:g.92517415del
  • NG_008341.1:g.16125del
  • NG_008341.2:g.16125del
  • NM_000466.3:c.1108delMANE SELECT
  • NM_001282677.2:c.1108del
  • NM_001282678.2:c.484del
  • NP_000457.1:p.Ile370fs
  • NP_001269606.1:p.Ile370fs
  • NP_001269607.1:p.Ile162fs
  • NC_000007.13:g.92146721del
  • NC_000007.13:g.92146729del
  • NC_000007.13:g.92146729delT
  • NM_000466.2:c.1108del
  • NM_000466.2:c.1108delA
Protein change:
I162fs
Links:
dbSNP: rs61750406
NCBI 1000 Genomes Browser:
rs61750406
Molecular consequence:
  • NM_000466.3:c.1108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282677.2:c.1108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282678.2:c.484del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Peroxisome biogenesis disorder 1B (PBD1B)
Identifiers:
MONDO: MONDO:0011101; MedGen: C0282527; Orphanet: 44; OMIM: 601539

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000487738Counsylcriteria provided, single submitter
Likely pathogenic
(Oct 7, 2016)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000487738.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2021

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