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NM_000287.4(PEX6):c.1947del (p.Ile650fs) AND Zellweger spectrum disorders

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 26, 2020
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:
RCV001834835.1

Allele description [Variation Report for NM_000287.4(PEX6):c.1947del (p.Ile650fs)]

NM_000287.4(PEX6):c.1947del (p.Ile650fs)

Gene:
PEX6:peroxisomal biogenesis factor 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000287.4(PEX6):c.1947del (p.Ile650fs)
HGVS:
  • NC_000006.12:g.42966797del
  • NG_008370.1:g.17448del
  • NM_000287.4:c.1947delMANE SELECT
  • NM_001316313.2:c.1683del
  • NP_000278.3:p.Ile650fs
  • NP_001303242.1:p.Ile562fs
  • NC_000006.11:g.42934534del
  • NC_000006.11:g.42934535del
  • NM_000287.3:c.1947del
  • NM_000287.3:c.1947delG
  • NR_133009.2:n.1978del
Protein change:
I562fs
Links:
dbSNP: rs267608227
NCBI 1000 Genomes Browser:
rs267608227
Molecular consequence:
  • NM_000287.4:c.1947del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001316313.2:c.1683del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_133009.2:n.1978del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Zellweger spectrum disorders (ZS)
Synonyms:
Zellweger syndrome; Zellweger Spectrum Disorder; Zellweger Spectrum
Identifiers:
MONDO: MONDO:0019609; MedGen: C0043459; Orphanet: 912

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002077290Natera, Inc.
no assertion criteria provided
Pathogenic
(Aug 26, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002077290.1

#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: Dec 22, 2024