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NM_000466.3(PEX1):c.2724dup (p.Glu909fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 12, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000676105.5

Allele description [Variation Report for NM_000466.3(PEX1):c.2724dup (p.Glu909fs)]

NM_000466.3(PEX1):c.2724dup (p.Glu909fs)

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.2724dup (p.Glu909fs)
HGVS:
  • NC_000007.14:g.92496772dup
  • NG_008341.2:g.36760dup
  • NM_000466.3:c.2724dupMANE SELECT
  • NM_001282677.2:c.2553dup
  • NM_001282678.2:c.2100dup
  • NP_000457.1:p.Glu909fs
  • NP_001269606.1:p.Glu852fs
  • NP_001269607.1:p.Glu701fs
  • NC_000007.13:g.92126086dup
  • NG_008341.1:g.36760dup
  • NM_000466.2:c.2724dup
Protein change:
E701fs
Links:
dbSNP: rs1554369227
NCBI 1000 Genomes Browser:
rs1554369227
Molecular consequence:
  • NM_000466.3:c.2724dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282677.2:c.2553dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282678.2:c.2100dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000801847Mayo Clinic Laboratories, Mayo Clinic
no assertion criteria provided
Likely pathogenic
(Jul 12, 2017) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000801847.1

#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: Jun 10, 2023