NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) AND not provided

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000171254.1

Allele description [Variation Report for NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)]

NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)

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.334C>T (p.Gln112Ter)
HGVS:
  • NC_000017.11:g.35577384G>A
  • NG_008447.1:g.6254C>T
  • NM_000286.3:c.334C>TMANE SELECT
  • NP_000277.1:p.Gln112Ter
  • NC_000017.10:g.33904403G>A
  • NM_000286.2:c.334C>T
Protein change:
Q112*
Links:
dbSNP: rs776731688
NCBI 1000 Genomes Browser:
rs776731688
Molecular consequence:
  • NM_000286.3:c.334C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000221451Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centreno assertion criteria provided
Likely pathogenicgermlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre, SCV000221451.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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