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NM_000039.3(APOA1):c.548T>C (p.Leu183Pro) AND APOA1-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 21, 2023
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:
RCV003966525.2

Allele description [Variation Report for NM_000039.3(APOA1):c.548T>C (p.Leu183Pro)]

NM_000039.3(APOA1):c.548T>C (p.Leu183Pro)

Gene:
APOA1:apolipoprotein A1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_000039.3(APOA1):c.548T>C (p.Leu183Pro)
HGVS:
  • NC_000011.10:g.116836064A>G
  • NG_012021.1:g.6559T>C
  • NM_000039.2:c.548T>C
  • NM_000039.3:c.548T>CMANE SELECT
  • NM_001318017.2:c.548T>C
  • NM_001318018.2:c.548T>C
  • NM_001318021.2:c.221T>C
  • NM_001425090.1:c.548T>C
  • NM_001425091.1:c.221T>C
  • NM_001425092.1:c.221T>C
  • NM_001425093.1:c.503T>C
  • NP_000030.1:p.Leu183Pro
  • NP_000030.1:p.Leu183Pro
  • NP_001304946.1:p.Leu183Pro
  • NP_001304947.1:p.Leu183Pro
  • NP_001304950.1:p.Leu74Pro
  • NP_001304950.1:p.Leu74Pro
  • NP_001412019.1:p.Leu183Pro
  • NP_001412020.1:p.Leu74Pro
  • NP_001412021.1:p.Leu74Pro
  • NP_001412022.1:p.Leu168Pro
  • LRG_767t1:c.548T>C
  • LRG_767:g.6559T>C
  • LRG_767p1:p.Leu183Pro
  • NC_000011.9:g.116706780A>G
  • NM_000039.1:c.548T>C
  • NM_001318021.1:c.221T>C
Protein change:
L168P
Molecular consequence:
  • NM_000039.3:c.548T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318017.2:c.548T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318018.2:c.548T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318021.2:c.221T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425090.1:c.548T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425091.1:c.221T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425092.1:c.221T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425093.1:c.503T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
APOA1-related disorder
Synonyms:
APOA1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004784763PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Dec 21, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004784763.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The APOA1 c.548T>C variant is predicted to result in the amino acid substitution p.Leu183Pro. This variant has been reported in multiple related individuals with HDL deficiency relative to family members without the c.548T>C (p.Leu183Pro) variant (Figure 1, Miller et al. 1998. PubMed ID: 9714130). This variant has not been reported in a large population database, indicating this variant is rare. An alternate nucleotide substitution affecting the same amino acid (p.Leu183Arg), has been reported in multiple individuals with hypoalphalipoproteinemia (Figure 1, Miettinen et al. 1997. PubMed ID: 9012641). In vivo studies suggest the p.Leu183Arg variant increases the extent of atherosclerosis in mice expressing the variant (Sorci-Thomas et al. 2011. PubMed ID: 21944998; Tiniakou et al. 2015. PubMed ID: 26363436). This variant is interpreted as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024