U.S. flag

An official website of the United States government

NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) AND Peroxisome biogenesis disorder 1A (Zellweger)

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Sep 6, 2024
Review status:
no classifications from unflagged records
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:
RCV000672142.2

Allele description [Variation Report for NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)]

NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)

Genes:
GATAD1:GATA zinc finger domain containing 1 [Gene - OMIM - HGNC]
PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)
HGVS:
  • NC_000007.14:g.92494567C>T
  • NG_008341.2:g.38965G>A
  • NM_000466.3:c.2846G>AMANE SELECT
  • NM_001282677.2:c.2675G>A
  • NM_001282678.2:c.2222G>A
  • NP_000457.1:p.Arg949Gln
  • NP_001269606.1:p.Arg892Gln
  • NP_001269607.1:p.Arg741Gln
  • NC_000007.13:g.92123881C>T
  • NG_008341.1:g.38965G>A
  • NM_000466.2:c.2846G>A
Protein change:
R741Q
Links:
dbSNP: rs61750425
NCBI 1000 Genomes Browser:
rs61750425
Molecular consequence:
  • NM_000466.3:c.2846G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282677.2:c.2675G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282678.2:c.2222G>A - missense variant - [Sequence Ontology: SO:0001583]

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
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

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

Citations

PubMed

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

Ebberink MS, Mooijer PA, Gootjes J, Koster J, Wanders RJ, Waterham HR.

Hum Mutat. 2011 Jan;32(1):59-69. doi: 10.1002/humu.21388.

PubMed [citation]
PMID:
21031596

Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.

Walter C, Gootjes J, Mooijer PA, Portsteffen H, Klein C, Waterham HR, Barth PG, Epplen JT, Kunau WH, Wanders RJ, Dodt G.

Am J Hum Genet. 2001 Jul;69(1):35-48. Epub 2001 Jun 1.

PubMed [citation]
PMID:
11389485
PMCID:
PMC1226046

Details of each submission

From Counsyl, SCV000797212.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000797212Counsyl
flagged submission
Reason: Older and outlier claim with insufficient supporting evidence
Notes: None

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Jan 16, 2018) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Last Updated: Nov 30, 2024