NM_001371904.1(APOA5):c.117_120del (p.Arg40fs) AND Familial type 5 hyperlipoproteinemia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 28, 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:: RCV003134709.3

Allele description [Variation Report for NM_001371904.1(APOA5):c.117_120del (p.Arg40fs)]

NM_001371904.1(APOA5):c.117_120del (p.Arg40fs)

Genes:

APOA5:apolipoprotein A5 [Gene - OMIM - HGNC]
LOC108491825:enhancer-blocking element 11-1-2 overlapping APOA5 [Gene]

Variant type:

Deletion

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_001371904.1(APOA5):c.117_120del (p.Arg40fs)

HGVS:

NC_000011.10:g.116791630_116791633del
NG_015894.2:g.5791_5794del
NG_051344.1:g.685_688del
NM_001166598.2:c.117_120del
NM_001371904.1:c.117_120delMANE SELECT
NM_052968.5:c.117_120del
NP_001160070.1:p.Arg40fs
NP_001358833.1:p.Arg40fs
NP_443200.2:p.Arg40fs
NC_000011.9:g.116662346_116662349del

Protein change:

R40fs

Molecular consequence:

NM_001166598.2:c.117_120del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371904.1:c.117_120del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_052968.5:c.117_120del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV003814291	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 28, 2022)	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

SCV003814291

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 28, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From Revvity Omics, Revvity, SCV003814291.2

#	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: Mar 16, 2024

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