NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter) AND Familial type 5 hyperlipoproteinemia

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 18, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002289560.5

Allele description [Variation Report for NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter)]

NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter)

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.289C>T (p.Gln97Ter)

HGVS:

NC_000011.10:g.116790940G>A
NG_015894.2:g.6481C>T
NM_001166598.2:c.289C>T
NM_001371904.1:c.289C>TMANE SELECT
NM_052968.5:c.289C>T
NP_001160070.1:p.Gln97Ter
NP_001358833.1:p.Gln97Ter
NP_443200.2:p.Gln97Ter
NP_443200.2:p.Gln97Ter
NC_000011.9:g.116661656G>A
NG_015894.1:g.6481C>T
NM_052968.4(APOA5):c.289C>T
NM_052968.4:c.289C>T
NM_052968.5:c.289C>T
p.Gln97Ter

Protein change:

Q97*

Links:

dbSNP: rs201079485

NCBI 1000 Genomes Browser:

rs201079485

Molecular consequence:

NM_001166598.2:c.289C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001371904.1:c.289C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_052968.5:c.289C>T - nonsense - [Sequence Ontology: SO:0001587]

Functional consequence:

loss_of_function_variant [Sequence Ontology: SO:0002054]

Observations:

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002580827	MGZ Medical Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 18, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003815556	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 21, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002580827

MGZ Medical Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 18, 2022)

germline

clinical testing

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

SCV003815556

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 21, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From MGZ Medical Genetics Center, SCV002580827.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

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

From Revvity Omics, Revvity, SCV003815556.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: May 7, 2024

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