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NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 25, 2017
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:
RCV000660614.5

Allele description [Variation Report for NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys)]

NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys)

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.3756T>A (p.Asn1252Lys)
HGVS:
  • NC_000007.14:g.92489304A>T
  • NG_008341.2:g.44228T>A
  • NM_000466.3:c.3756T>AMANE SELECT
  • NM_001282677.2:c.3585T>A
  • NM_001282678.2:c.3132T>A
  • NP_000457.1:p.Asn1252Lys
  • NP_001269606.1:p.Asn1195Lys
  • NP_001269607.1:p.Asn1044Lys
  • NC_000007.13:g.92118618A>T
  • NG_008341.1:g.44228T>A
  • NM_001282678.1:c.3132T>A
Protein change:
N1044K
Links:
dbSNP: rs553001596
NCBI 1000 Genomes Browser:
rs553001596
Molecular consequence:
  • NM_000466.3:c.3756T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282677.2:c.3585T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282678.2:c.3132T>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
Name:
Heimler syndrome 1 (HMLR1)
Synonyms:
PEROXISOME BIOGENESIS DISORDER 1C
Identifiers:
MedGen: C4551980; Orphanet: 3220; OMIM: 234580
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
SCV000782731Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 25, 2017) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknownnot 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 Mayo Clinic Laboratories, Mayo Clinic, SCV000782731.1

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

Last Updated: Sep 29, 2024