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NM_015627.3(LDLRAP1):c.459+2T>G AND Hypercholesterolemia, familial, 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2005
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:
RCV000005046.3

Allele description [Variation Report for NM_015627.3(LDLRAP1):c.459+2T>G]

NM_015627.3(LDLRAP1):c.459+2T>G

Gene:
LDLRAP1:low density lipoprotein receptor adaptor protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_015627.3(LDLRAP1):c.459+2T>G
HGVS:
  • NC_000001.11:g.25557269T>G
  • NG_008932.1:g.18685T>G
  • NM_015627.3:c.459+2T>GMANE SELECT
  • LRG_276:g.18685T>G
  • NC_000001.10:g.25883760T>G
Nucleotide change:
IVS4DS, T-G, +2
Links:
OMIM: 605747.0008; dbSNP: rs1461905374
NCBI 1000 Genomes Browser:
rs1461905374
Molecular consequence:
  • NM_015627.3:c.459+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Hypercholesterolemia, familial, 4 (FHCL4)
Synonyms:
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 1; HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2; Hypercholesterolemia, autosomal recessive
Identifiers:
MONDO: MONDO:0011374; MedGen: C1863512; Orphanet: 391665; OMIM: 603813

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000025222OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2005) 		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

A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia.

Canizales-Quinteros S, Aguilar-Salinas CA, Huertas-Vázquez A, Ordóñez-Sánchez ML, Rodríguez-Torres M, Venturas-Gallegos JL, Riba L, Ramírez-Jimenez S, Salas-Montiel R, Medina-Palacios G, Robles-Osorio L, Miliar-García A, Rosales-León L, Ruiz-Ordaz BH, Zentella-Dehesa A, Ferré-D'Amare A, Gómez-Pérez FJ, Tusié-Luna MT.

Hum Genet. 2005 Jan;116(1-2):114-20. Epub 2004 Nov 17.

PubMed [citation]
PMID:
15599766

Details of each submission

From OMIM, SCV000025222.3

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

Description

In 2 affected sibs from a nonconsanguineous Mexican family with autosomal recessive hypercholesterolemia (FHCL4; 603813), Canizales-Quinteros et al. (2005) identified homozygosity for a +2T-G transversion in intron 4 of the ARH gene, resulting in the activation of a cryptic splice site and the expression of a mutant protein lacking 26 amino acids involving the beta-6 and beta-7 strands of the phosphotyrosine-binding (PTB) domain. The authors stated that this was the first case of an ARH mutation causing an altered PTB domain. Both parents and an unaffected sister were heterozygous for the mutation, which was not found in 41 unrelated normolipidemic Mexican individuals.

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

Last Updated: Aug 5, 2023