NM_000483.5(APOC2):c.177C>G (p.Tyr59Ter) AND Familial apolipoprotein C-II deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 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:: RCV000002696.2

Allele description [Variation Report for NM_000483.5(APOC2):c.177C>G (p.Tyr59Ter)]

NM_000483.5(APOC2):c.177C>G (p.Tyr59Ter)

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.177C>G (p.Tyr59Ter)

Other names:

Y37*

HGVS:

NC_000019.10:g.44948822C>G
NG_008837.1:g.7837C>G
NM_000483.5:c.177C>GMANE SELECT
NP_000474.2:p.Tyr59Ter
NC_000019.9:g.45452079C>G
NM_000483.4:c.177C>G
NR_037932.1:n.1384C>G

Protein change:

Y59*; TYR37TER

Links:

OMIM: 608083.0008; dbSNP: rs120074111

NCBI 1000 Genomes Browser:

rs120074111

Molecular consequence:

NR_037932.1:n.1384C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000483.5:c.177C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Familial apolipoprotein C-II deficiency
Synonyms:: APOC2 DEFICIENCY; C-II ANAPOLIPOPROTEINEMIA; HYPERLIPOPROTEINEMIA, TYPE IB; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008810; MedGen: C1720779; Orphanet: 444490; OMIM: 207750

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022854	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 1994)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 1971748, 7815420

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000022854

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 1994)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Identification of the mutation responsible for a case of plasmatic apolipoprotein CII deficiency (Apo CII-Bari).

Crecchio C, Capurso A, Pepe G.

Biochem Biophys Res Commun. 1990 May 16;168(3):1118-27.

PubMed [citation]

PMID:: 1971748

Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana.

Tuzgöl S, Bijvoet SM, Bruin T, Kastelein JJ, Hayden MR.

J Med Genet. 1994 Aug;31(8):622-6.

PubMed [citation]

PMID:: 7815420
PMCID:: PMC1050024

Details of each submission

From OMIM, SCV000022854.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In an Italian family with 2 sibs with an abnormally high level of triglycerides and total deficiency of plasma C-II (207750), Crecchio et al. (1990) identified a C-G mutation in the third exon of the APOC2 gene, causing premature termination. Truncated at amino acid 36 of the mature form, the protein lost its functional domains, became inefficient, and could not be detected in plasma because of its high instability. The mutation destroyed an RsaI site.

Tuzgol et al. (1994) stated that the nonsense mutation in the APOC2 gene in apolipoprotein C-II(Bari) involves a 3002C-G transversion, resulting in the change of codon 37 from TAC (tyr) to TAG (stop). The codon involved is precisely the same as that in apolipoprotein C-II(Padova) (608083.0002) which has been reported in patients of Sicilian descent; the Bari variant was discovered in a patient of Sicilian descent. The nucleotides surrounding these mutations are GC rich and the presence of GC dinucleotides may serve as a potential hotspot for mutations.

#	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: Apr 23, 2022

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