NM_000466.3(PEX1):c.1108del (p.Ile370fs) AND none provided

Clinical significance:Likely pathogenic (Last evaluated: Apr 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001287378.2

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:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001474064ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Likely pathogenic
(Apr 3, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001474064.1

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

Last Updated: Nov 27, 2021

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