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NM_000039.3(APOA1):c.43+1G>C AND Hypoalphalipoproteinemia, primary, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 1999
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:
RCV000019523.25

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

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

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>C
HGVS:
  • NC_000011.10:g.116837344C>G
  • NG_012021.1:g.5279G>C
  • NM_000039.3:c.43+1G>CMANE SELECT
  • NM_001318017.2:c.43+1G>C
  • NM_001318018.2:c.43+1G>C
  • NM_001318021.2:c.-241+1G>C
  • NM_001425090.1:c.43+1G>C
  • NM_001425091.1:c.-128+1G>C
  • NM_001425092.1:c.-277+1G>C
  • NM_001425093.1:c.43+1G>C
  • LRG_767:g.5279G>C
  • NC_000011.9:g.116708060C>G
Nucleotide change:
IVS2, G-C, +1
Links:
OMIM: 107680.0023; dbSNP: rs2134233729
NCBI 1000 Genomes Browser:
rs2134233729
Molecular consequence:
  • NM_000039.3:c.43+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318017.2:c.43+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318018.2:c.43+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318021.2:c.-241+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001425090.1:c.43+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001425091.1:c.-128+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001425092.1:c.-277+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001425093.1:c.43+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000039820OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 1999) 		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

Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey.

Yamakawa-Kobayashi K, Yanagi H, Fukayama H, Hirano C, Shimakura Y, Yamamoto N, Arinami T, Tsuchiya S, Hamaguchi H.

Hum Mol Genet. 1999 Feb;8(2):331-6.

PubMed [citation]
PMID:
9931341

Details of each submission

From OMIM, SCV000039820.2

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

Description

One of 4 mutations in the APOA1 gene found by Yamakawa-Kobayashi et al. (1999) as the cause of primary hypoalphalipoproteinemia (618463) was a donor splice site mutation in intron 2, changing the canonical +1 from G to C.

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

Last Updated: Sep 1, 2024