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NM_000039.3(APOA1):c.158A>G (p.Tyr53Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 29, 2019
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:
RCV001193576.1

Allele description [Variation Report for NM_000039.3(APOA1):c.158A>G (p.Tyr53Cys)]

NM_000039.3(APOA1):c.158A>G (p.Tyr53Cys)

Genes:
APOA1-AS:APOA1 antisense RNA [Gene - OMIM - HGNC]
APOA1:apolipoprotein A1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_000039.3(APOA1):c.158A>G (p.Tyr53Cys)
HGVS:
  • NC_000011.10:g.116837043T>C
  • NG_012021.1:g.5580A>G
  • NM_000039.3:c.158A>GMANE SELECT
  • NM_001318017.2:c.158A>G
  • NM_001318018.2:c.158A>G
  • NM_001318021.2:c.-170A>G
  • NP_000030.1:p.Tyr53Cys
  • NP_000030.1:p.Tyr53Cys
  • NP_001304946.1:p.Tyr53Cys
  • NP_001304947.1:p.Tyr53Cys
  • LRG_767t1:c.158A>G
  • LRG_767:g.5580A>G
  • LRG_767p1:p.Tyr53Cys
  • NC_000011.9:g.116707759T>C
  • NC_000011.9:g.116707759T>C
  • NM_000039.1:c.158A>G
  • NM_000039.2:c.158A>G
  • NM_001318021.1:c.-170A>G
Protein change:
Y53C
Links:
dbSNP: rs750185173
NCBI 1000 Genomes Browser:
rs750185173
Molecular consequence:
  • NM_000039.3:c.158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318017.2:c.158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318018.2:c.158A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001362492Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Oct 29, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001362492.1

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

Description

Variant summary: APOA1 c.158A>G (p.Tyr53Cys) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251434 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The LOVD database has reported a classification of this variant as likely benign without evidence for independent evaluation. To our knowledge, no occurrence of c.158A>G in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024