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NM_000039.3(APOA1):c.166C>T (p.Gln56Ter) AND Hypoalphalipoproteinemia, primary, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 1994
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:
RCV004555840.1

Allele description [Variation Report for NM_000039.3(APOA1):c.166C>T (p.Gln56Ter)]

NM_000039.3(APOA1):c.166C>T (p.Gln56Ter)

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.166C>T (p.Gln56Ter)
Other names:
Q32*
HGVS:
  • NC_000011.10:g.116837035G>A
  • NG_012021.1:g.5588C>T
  • NM_000039.3:c.166C>TMANE SELECT
  • NM_001318017.2:c.166C>T
  • NM_001318018.2:c.166C>T
  • NM_001318021.2:c.-162C>T
  • NP_000030.1:p.Gln56Ter
  • NP_000030.1:p.Gln56Ter
  • NP_001304946.1:p.Gln56Ter
  • NP_001304947.1:p.Gln56Ter
  • LRG_767t1:c.166C>T
  • LRG_767:g.5588C>T
  • LRG_767p1:p.Gln56Ter
  • NC_000011.9:g.116707751G>A
  • NM_000039.1:c.166C>T
  • NM_001318021.1:c.-162C>T
Protein change:
Q56*; GLN32TER
Links:
OMIM: 107680.0019; dbSNP: rs121912725
NCBI 1000 Genomes Browser:
rs121912725
Molecular consequence:
  • NM_000039.3:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318017.2:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318018.2:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hypoalphalipoproteinemia, primary, 2
Synonyms:
HIGH DENSITY LIPOPROTEIN DEFICIENCY; HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL RECESSIVE
Identifiers:
MONDO: MONDO:0032766; MedGen: C5551172; OMIM: 618463

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039816OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 1994) 		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 nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and periorbital xanthelasmas.

Römling R, von Eckardstein A, Funke H, Motti C, Fragiacomo GC, Noseda G, Assmann G.

Arterioscler Thromb. 1994 Dec;14(12):1915-22.

PubMed [citation]
PMID:
7981179

Details of each submission

From OMIM, SCV000039816.3

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

Description

Romling et al. (1994) found homozygosity for a gln32-to-ter (Q32X) mutation in the APOA1 gene in a 31-year-old woman who presented with no signs of coronary artery or other atherosclerosis. She came from a large Sicilian family with no apparent increased prevalence of myocardial infarction. Among 8 sibs of the proband's heterozygous parents, 7 persons, aged 57 to 73, were alive and had no symptoms of atherosclerotic disease. The parents were first cousins. During her first pregnancy at age 22, the homozygous proband developed bilateral periorbital xanthelasmas, which did not progress after delivery. She had smoked 10 to 12 cigarettes per day since the age of 18 years. Heterozygotes showed half-normal plasma concentrations of HDL cholesterol and apoA-I.

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

Last Updated: Oct 13, 2024