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NM_000286.3(PEX12):c.949C>T (p.Leu317Phe) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 13, 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:
RCV000675048.1

Allele description [Variation Report for NM_000286.3(PEX12):c.949C>T (p.Leu317Phe)]

NM_000286.3(PEX12):c.949C>T (p.Leu317Phe)

Gene:
PEX12:peroxisomal biogenesis factor 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_000286.3(PEX12):c.949C>T (p.Leu317Phe)
HGVS:
  • NC_000017.11:g.35575913G>A
  • NG_008447.1:g.7725C>T
  • NM_000286.3:c.949C>TMANE SELECT
  • NP_000277.1:p.Leu317Phe
  • NC_000017.10:g.33902932G>A
  • NM_000286.2:c.949C>T
Protein change:
L317F; LEU317PHE
Links:
OMIM: 601758.0010; dbSNP: rs61752112
NCBI 1000 Genomes Browser:
rs61752112
Molecular consequence:
  • NM_000286.3:c.949C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Peroxisome biogenesis disorder type 3B
Identifiers:
MONDO: MONDO:0009959; MedGen: C3550693; Orphanet: 44; OMIM: 266510
Name:
Peroxisome biogenesis disorder 3A (Zellweger)
Synonyms:
PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER); Peroxisome biogenesis disorder 3A
Identifiers:
MONDO: MONDO:0013927; MedGen: C3553929; Orphanet: 912; OMIM: 614859

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000800484Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Jan 13, 2018) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder.

Gootjes J, Skovby F, Christensen E, Wanders RJ, Ferdinandusse S.

Neurology. 2004 Jun 8;62(11):2077-81.

PubMed [citation]
PMID:
15184617

Details of each submission

From Counsyl, SCV000800484.1

#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: Apr 6, 2024