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NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 10, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003162207.2

Allele description [Variation Report for NM_000483.5(APOC2):c.122A>C (p.Lys41Thr)]

NM_000483.5(APOC2):c.122A>C (p.Lys41Thr)

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.122A>C (p.Lys41Thr)
Other names:
APOC2, LYS19THR
HGVS:
  • NC_000019.10:g.44948767A>C
  • NG_008837.1:g.7782A>C
  • NM_000483.5:c.122A>CMANE SELECT
  • NP_000474.2:p.Lys41Thr
  • NC_000019.9:g.45452024A>C
  • NM_000483.4:c.122A>C
  • NR_037932.1:n.1329A>C
  • P02655:p.Lys41Thr
Protein change:
K41T
Links:
UniProtKB: P02655#VAR_000639; OMIM: 608083.0009; dbSNP: rs120074114
NCBI 1000 Genomes Browser:
rs120074114
Molecular consequence:
  • NM_000483.5:c.122A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037932.1:n.1329A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003911618Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 10, 2022) 		germlineclinical testing

PubMed (12)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Studies on an apolipoprotein C-II variant occurring in Caucasians.

Menke-Möllers I, Kurth J, Oette K.

Electrophoresis. 1992 Apr;13(4):244-51.

PubMed [citation]
PMID:
1628605

An apolipoprotein CII mutation, CIILys19----Thr' identified in patients with hyperlipidemia.

Hegele RA, Connelly PW, Maguire GF, Huff MW, Leiter L, Wolfe BM, Evans AJ, Little JA.

Dis Markers. 1991 Mar-Apr;9(2):73-80.

PubMed [citation]
PMID:
1782747
See all PubMed Citations (12)

Details of each submission

From Ambry Genetics, SCV003911618.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (12)

Description

The p.K41T variant (also known as c.122A>C), located in coding exon 2 of the APOC2 gene, results from an A to C substitution at nucleotide position 122. The lysine at codon 41 is replaced by threonine, an amino acid with similar properties. This variant (also referred to as Lys19Thr) has been detected in the heterozygous state in individuals with and without elevated triglycerides (Hegele RA et al. Dis Markers. 1991;9(2):73-80; Menke-Möllers I et al. Electrophoresis. 1992 Apr;13(4):244-51; Zysow BR et al. Clin Genet. 1994 Jun;45(6):292-7; Johansen CT et al. Circ Cardiovasc Genet. 2012 Feb;5(1):66-72). This variant has also been detected in some individuals with amyloidosis (Sethi S et al. Kidney Int Rep, 2018 Sep;3:1193-1201; Liapis K et al. Amyloid, 2019 Mar;26:52-53; Dasari S et al. Mayo Clin Proc, 2020 09;95:1852-1864). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 24, 2024