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NM_000039.3(APOA1):c.43+1G>T AND Hereditary spastic paraplegia 50

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2009
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000007774.4

Allele description [Variation Report for NM_000039.3(APOA1):c.43+1G>T]

NM_000039.3(APOA1):c.43+1G>T

Genes:
APOA1-AS:APOA1 antisense RNA [Gene - OMIM - HGNC]
APOA1:apolipoprotein A1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_000039.3(APOA1):c.43+1G>T
HGVS:
  • NC_000011.10:g.116837344C>A
  • NG_012021.1:g.5279G>T
  • NM_000039.3:c.43+1G>TMANE SELECT
  • NM_001318017.2:c.43+1G>T
  • NM_001318018.2:c.43+1G>T
  • NM_001318021.2:c.-241+1G>T
  • NM_001425090.1:c.43+1G>T
  • NM_001425091.1:c.-128+1G>T
  • NM_001425092.1:c.-277+1G>T
  • NM_001425093.1:c.43+1G>T
  • LRG_767:g.5279G>T
  • NC_000011.9:g.116708060C>A
Nucleotide change:
IVS14DS, G-T, +1
Links:
OMIM: 602296.0001; dbSNP: rs2134233729
NCBI 1000 Genomes Browser:
rs2134233729
Molecular consequence:
  • NM_000039.3:c.43+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318017.2:c.43+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318018.2:c.43+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318021.2:c.-241+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001425090.1:c.43+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001425091.1:c.-128+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001425092.1:c.-277+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001425093.1:c.43+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Hereditary spastic paraplegia 50 (SPG50)
Synonyms:
Spastic paraplegia 50, autosomal recessive
Identifiers:
MONDO: MONDO:0013048; MedGen: C2752008; Orphanet: 280763; OMIM: 612936

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027975OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2009) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

Verkerk AJ, Schot R, Dumee B, Schellekens K, Swagemakers S, Bertoli-Avella AM, Lequin MH, Dudink J, Govaert P, van Zwol AL, Hirst J, Wessels MW, Catsman-Berrevoets C, Verheijen FW, de Graaff E, de Coo IF, Kros JM, Willemsen R, Willems PJ, van der Spek PJ, Mancini GM.

Am J Hum Genet. 2009 Jul;85(1):40-52. doi: 10.1016/j.ajhg.2009.06.004. Epub 2009 Jun 25.

PubMed [citation]
PMID:
19559397
PMCID:
PMC2706965

Details of each submission

From OMIM, SCV000027975.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a consanguineous Moroccan family with autosomal recessive spastic paraplegia-50 (SPG50; 612936) and severe mental retardation, Verkerk et al. (2009) identified a homozygous G-to-T transversion in intron 14 of the AP4M1 gene (1137+1G-T), resulting in the skipping of exon 14 and a significantly decreased amount of normal AP4M1 protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024