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NM_000483.5(APOC2):c.78C>A (p.Pro26=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 8, 2019
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV002416627.2

Allele description [Variation Report for NM_000483.5(APOC2):c.78C>A (p.Pro26=)]

NM_000483.5(APOC2):c.78C>A (p.Pro26=)

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.78C>A (p.Pro26=)
HGVS:
  • NC_000019.10:g.44948723C>A
  • NG_008837.1:g.7738C>A
  • NM_000483.5:c.78C>AMANE SELECT
  • NP_000474.2:p.Pro26=
  • NC_000019.9:g.45451980C>A
  • NM_000483.4:c.78C>A
  • NR_037932.1:n.1285C>A
...more
Molecular consequence:
  • NR_037932.1:n.1285C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000483.5:c.78C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002676900Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Likely benign
(Jul 8, 2019)
germlineclinical testing

Citation Link

Last Updated: May 1, 2024

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