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NM_001371904.1(APOA5):c.1081A>C (p.Ser361Arg) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 30, 2021
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:
RCV002468470.1

Allele description [Variation Report for NM_001371904.1(APOA5):c.1081A>C (p.Ser361Arg)]

NM_001371904.1(APOA5):c.1081A>C (p.Ser361Arg)

Gene:
APOA5:apolipoprotein A5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_001371904.1(APOA5):c.1081A>C (p.Ser361Arg)
HGVS:
  • NC_000011.10:g.116790148T>G
  • NG_015894.2:g.7273A>C
  • NM_001166598.2:c.1081A>C
  • NM_001371904.1:c.1081A>CMANE SELECT
  • NM_052968.5:c.1081A>C
  • NP_001160070.1:p.Ser361Arg
  • NP_001358833.1:p.Ser361Arg
  • NP_443200.2:p.Ser361Arg
  • NC_000011.9:g.116660864T>G
  • NM_052968.4:c.1081A>C
Protein change:
S361R
Molecular consequence:
  • NM_001166598.2:c.1081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371904.1:c.1081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_052968.5:c.1081A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Familial type 5 hyperlipoproteinemia
Synonyms:
Hyperlipoproteinemia type 5; Hyperchylomicronemia late onset; Hyperchylomicronemia with hyperprebetalipoproteinemia, familial; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007762; MedGen: C0020481; OMIM: 144650
Name:
Hypertriglyceridemia 1
Synonyms:
Hypertriglyceridemia, familial
Identifiers:
MONDO: MONDO:0007788; MedGen: C5444012; OMIM: 145750

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002764352New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Aug 30, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV002764352.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.1081A>C, p.Ser361Arg missense variant has not been reported in individual with APOA5-related disorders. This variant is absent from the gnomAD v3.1.1 database suggesting it is not a common benign variant in the populations represented in this database and in silico tools predict a conflicting interpretation of pathogenicity. Based on the available evidence, the variant c.1081A>C, p.Ser361Arg in the APOA5 gene is classified as a Variant of UncertainSignificance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Aug 5, 2023