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NM_000466.3(PEX1):c.2353_2355delinsT (p.Thr785fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 20, 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:
RCV002309866.2

Allele description [Variation Report for NM_000466.3(PEX1):c.2353_2355delinsT (p.Thr785fs)]

NM_000466.3(PEX1):c.2353_2355delinsT (p.Thr785fs)

Gene:
PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_000466.3(PEX1):c.2353_2355delinsT (p.Thr785fs)
HGVS:
  • NC_000007.14:g.92501951_92501953delinsA
  • NG_008341.2:g.31579_31581delinsT
  • NM_000466.3:c.2353_2355delinsTMANE SELECT
  • NM_001282677.2:c.2182_2184delinsT
  • NM_001282678.2:c.1729_1731delinsT
  • NP_000457.1:p.Thr785fs
  • NP_001269606.1:p.Thr728fs
  • NP_001269607.1:p.Thr577fs
  • NC_000007.13:g.92131265_92131267delinsA
Protein change:
T577fs
Molecular consequence:
  • NM_000466.3:c.2353_2355delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282677.2:c.2182_2184delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282678.2:c.1729_1731delinsT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Peroxisome biogenesis disorder 1A (Zellweger) (PBD1A)
Synonyms:
Zellweger leukodystrophy; Peroxisome biogenesis disorder 1a
Identifiers:
MONDO: MONDO:0008953; MedGen: C4721541; OMIM: 214100
Name:
Peroxisome biogenesis disorder 1B (PBD1B)
Synonyms:
Refsum disease, infantile form; Infantile Refsum disease; Infantile form of phytanic acid storage disease
Identifiers:
MONDO: MONDO:0011101; MedGen: C0282527; Orphanet: 44; OMIM: 601539

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002603746Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Feb 20, 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., SCV002603746.2

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

Description

NM_000466.2(PEX1):c.2353_2355delACAinsT(T785Cfs*48) is expected to be pathogenic in the context of peroxisome biogenesis disorder type 1. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in PEX1, 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: Dec 24, 2022