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NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del) AND Peroxisome biogenesis disorder 3A (Zellweger)

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 5, 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:
RCV000662038.4

Allele description [Variation Report for NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del)]

NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del)

Gene:
PEX12:peroxisomal biogenesis factor 12 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del)
HGVS:
  • NC_000017.11:g.35577512AGA[1]
  • NG_008447.1:g.6121TCT[1]
  • NM_000286.3:c.201TCT[1]MANE SELECT
  • NP_000277.1:p.Leu70del
  • NC_000017.10:g.33904531AGA[1]
  • NM_000286.2:c.204_206delTCT
Protein change:
L70del
Links:
dbSNP: rs61752098
NCBI 1000 Genomes Browser:
rs61752098
Molecular consequence:
  • NM_000286.3:c.201TCT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

Condition(s)

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

Recent activity

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  • Replicon
    Replicon
    Any DNA sequence capable of independent replication or a molecule that possesses a REPLICATION ORIGIN and which is therefore potentially capable of being replicated in a suita...<br/>Year introduced: 1980
    MeSH
  • Genes, Modifier
    Genes, Modifier
    GENES with ALLELES that affect the PHENOTYPE associated with a nonallelic gene.<br/>Year introduced: 2012
    MeSH
  • Genes, T-Cell Receptor
    Genes, T-Cell Receptor
    DNA sequences, in cells of the T-lymphocyte lineage, that code for T-cell receptors. The TcR genes are formed by somatic rearrangement (see GENE REARRANGEMENT, T-LYMPHOCYTE an...<br/>Year introduced: 1998
    MeSH
  • Mitotic Index
    Mitotic Index
    An expression of the number of mitoses found in a stated number of cells.<br/>Year introduced: 1991(1975)
    MeSH
  • Pachytene Stage
    Pachytene Stage
    The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.<br/>Year introduced: 2005
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000784374Genomic Research Center, Shahid Beheshti University of Medical Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 5, 2018) 		inheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not 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 Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV000784374.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 6, 2024