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NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 31, 2018
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:
RCV000763597.2

Allele description [Variation Report for NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)]

NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)

Gene:
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.1991T>C (p.Leu664Pro)
HGVS:
  • NC_000007.14:g.92504812A>G
  • NG_008341.2:g.28720T>C
  • NM_000466.3:c.1991T>CMANE SELECT
  • NM_001282677.2:c.1900+1436T>C
  • NM_001282678.2:c.1367T>C
  • NP_000457.1:p.Leu664Pro
  • NP_001269607.1:p.Leu456Pro
  • NC_000007.13:g.92134126A>G
  • NG_008341.1:g.28720T>C
  • NM_000466.2:c.1991T>C
  • O43933:p.Leu664Pro
Protein change:
L456P; LEU664PRO
Links:
UniProtKB: O43933#VAR_008876; OMIM: 602136.0002; dbSNP: rs121434455
NCBI 1000 Genomes Browser:
rs121434455
Molecular consequence:
  • NM_001282677.2:c.1900+1436T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000466.3:c.1991T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282678.2:c.1367T>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:
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
SCV000894442Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 31, 2018) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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
PMC

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.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]
PMCID:
PMC4544753
PMID:
25741868
DOI:
10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000894442.1

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

Last Updated: Sep 29, 2024