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NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001004317.9

Allele description [Variation Report for NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)]

NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)

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.2966T>C (p.Ile989Thr)
HGVS:
  • NC_000007.14:g.92494357A>G
  • NG_008341.2:g.39175T>C
  • NM_000466.3:c.2966T>CMANE SELECT
  • NM_001282677.2:c.2795T>C
  • NM_001282678.2:c.2342T>C
  • NP_000457.1:p.Ile989Thr
  • NP_001269606.1:p.Ile932Thr
  • NP_001269607.1:p.Ile781Thr
  • NC_000007.13:g.92123671A>G
  • NG_008341.1:g.39175T>C
  • NM_000466.2:c.2966T>C
Protein change:
I781T
Links:
dbSNP: rs61750427
NCBI 1000 Genomes Browser:
rs61750427
Molecular consequence:
  • NM_000466.3:c.2966T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282677.2:c.2795T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282678.2:c.2342T>C - 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
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001163198Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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 Baylor Genetics, SCV001163198.1

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

Last Updated: Jun 29, 2024