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NM_000287.4(PEX6):c.2462del (p.Val821fs) AND Peroxisome biogenesis disorder 4A (Zellweger)

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 21, 2022
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:
RCV002306540.2

Allele description [Variation Report for NM_000287.4(PEX6):c.2462del (p.Val821fs)]

NM_000287.4(PEX6):c.2462del (p.Val821fs)

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.2462del (p.Val821fs)
HGVS:
  • NC_000006.12:g.42965690del
  • NG_008370.1:g.18554del
  • NG_008396.1:g.9929del
  • NM_000287.4:c.2462delMANE SELECT
  • NM_001316313.2:c.2198del
  • NP_000278.3:p.Val821fs
  • NP_001303242.1:p.Val733fs
  • NC_000006.11:g.42933428del
  • NR_133009.2:n.2246del
Protein change:
V733fs
Molecular consequence:
  • NM_000287.4:c.2462del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001316313.2:c.2198del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_133009.2:n.2246del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Peroxisome biogenesis disorder 4A (Zellweger) (PBD4A)
Synonyms:
Zellweger syndrome spectrum (PEX6-related)
Identifiers:
MONDO: MONDO:0013930; MedGen: C3553936; Orphanet: 912; OMIM: 614862

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002602569Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Jan 21, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002602569.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_000287.3(PEX6):c.2462delT(V821Gfs*13) is expected to be pathogenic in the context of peroxisome biogenesis disorder type 4. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in PEX6, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 7, 2023