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NM_000039.3(APOA1):c.162G>C (p.Val54=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 11, 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:
RCV002399336.9

Allele description [Variation Report for NM_000039.3(APOA1):c.162G>C (p.Val54=)]

NM_000039.3(APOA1):c.162G>C (p.Val54=)

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.162G>C (p.Val54=)
HGVS:
  • NC_000011.10:g.116837039C>G
  • NG_012021.1:g.5584G>C
  • NM_000039.3:c.162G>CMANE SELECT
  • NM_001318017.2:c.162G>C
  • NM_001318018.2:c.162G>C
  • NM_001318021.2:c.-166G>C
  • NP_000030.1:p.Val54=
  • NP_000030.1:p.Val54=
  • NP_001304946.1:p.Val54=
  • NP_001304947.1:p.Val54=
  • LRG_767t1:c.162G>C
  • LRG_767:g.5584G>C
  • LRG_767p1:p.Val54=
  • NC_000011.9:g.116707755C>G
  • NM_000039.1:c.162G>C
  • NM_001318021.1:c.-166G>C
Links:
dbSNP: rs193922099
NCBI 1000 Genomes Browser:
rs193922099
Molecular consequence:
  • NM_000039.3:c.162G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001318017.2:c.162G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001318018.2:c.162G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002707577Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 11, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002707577.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 10, 2024