U.S. flag

An official website of the United States government

NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln) AND Peroxisome biogenesis disorder 1A (Zellweger)

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 5, 2019
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:
RCV000857244.1

Allele description [Variation Report for NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln)]

NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln)

Gene:
PEX6:peroxisomal biogenesis factor 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln)
HGVS:
  • NC_000006.12:g.42965717C>T
  • NG_008370.1:g.18527G>A
  • NG_008396.1:g.9956C>T
  • NM_000287.4:c.2435G>AMANE SELECT
  • NM_001316313.2:c.2171G>A
  • NP_000278.3:p.Arg812Gln
  • NP_001303242.1:p.Arg724Gln
  • NC_000006.11:g.42933455C>T
  • NM_000287.3:c.2435G>A
  • NR_133009.2:n.2219G>A
  • p.(Arg812Gln)
Protein change:
R724Q
Links:
dbSNP: rs61753229
NCBI 1000 Genomes Browser:
rs61753229
Molecular consequence:
  • NM_000287.4:c.2435G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316313.2:c.2171G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_133009.2:n.2219G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

Condition(s)

Name:
Peroxisome biogenesis disorder 1A (Zellweger) (PBD1A)
Synonyms:
Zellweger leukodystrophy; Peroxisome biogenesis disorder 1a
Identifiers:
MONDO: MONDO:0008953; MedGen: C4721541; OMIM: 214100

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000999831Center of Genomic medicine, Geneva, University Hospital of Geneva
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 5, 2019) 		maternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV000999831.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

This variant was identified in combination with a second variant in trans in the same gene (PEX6 - composite heterozygosity) in a newborn patient with Zellweger syndrome

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Sep 29, 2024