NM_000483.5(APOC2):c.229A>C (p.Lys77Gln) AND APOLIPOPROTEIN C-II (AFRICAN)

Clinical significance:Pathogenic (Last evaluated: Feb 1, 1986)
Review status:(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV000002682.2

Allele description [Variation Report for NM_000483.5(APOC2):c.229A>C (p.Lys77Gln)]

NM_000483.5(APOC2):c.229A>C (p.Lys77Gln)

Genes:

APOC4-APOC2:APOC4-APOC2 readthrough (NMD candidate) [Gene - HGNC]
APOC2:apolipoprotein C2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_000483.5(APOC2):c.229A>C (p.Lys77Gln)

Other names:

APOC2, LYS55GLN

HGVS:

NC_000019.10:g.44949172A>C
NG_008837.1:g.8187A>C
NM_000483.5:c.229A>CMANE SELECT
NP_000474.2:p.Lys77Gln
NC_000019.9:g.45452429A>C
NM_000483.4:c.229A>C
NR_037932.1:n.1436A>C
P02655:p.Lys77Gln

Protein change:

K77Q

Links:

UniProtKB: P02655#VAR_000642; OMIM: 608083.0001; dbSNP: rs5126

NCBI 1000 Genomes Browser:

rs5126

Molecular consequence:

NM_000483.5:c.229A>C - missense variant - [Sequence Ontology: SO:0001583]
NR_037932.1:n.1436A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: APOLIPOPROTEIN C-II (AFRICAN)
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022840	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 1986)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000022840

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 1986)

germline

literature only

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

Summary from all submissions

Help

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A variant primary structure of apolipoprotein C-II in individuals of African descent.

Menzel HJ, Kane JP, Malloy MJ, Havel RJ.

J Clin Invest. 1986 Feb;77(2):595-601.

PubMed [citation]

PMID:: 3944271
PMCID:: PMC423392

Details of each submission

From OMIM, SCV000022840.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Menzel et al. (1986) showed that about 12% of Americans of African ancestry have a variant of apoC-II, an isoform with substitution of glutamine for lysine at residue 55. This isoform could have been generated by either of 2 single-base exchanges.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 4, 2023

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