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NM_000041.4(APOE):c.381G>A (p.Glu127=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 16, 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:
RCV002363322.2

Allele description [Variation Report for NM_000041.4(APOE):c.381G>A (p.Glu127=)]

NM_000041.4(APOE):c.381G>A (p.Glu127=)

Gene:
APOE:apolipoprotein E [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_000041.4(APOE):c.381G>A (p.Glu127=)
HGVS:
  • NC_000019.10:g.44908677G>A
  • NG_007084.2:g.7896G>A
  • NM_000041.4:c.381G>AMANE SELECT
  • NM_001302688.2:c.459G>A
  • NM_001302689.2:c.381G>A
  • NM_001302690.2:c.381G>A
  • NM_001302691.2:c.381G>A
  • NP_000032.1:p.Glu127=
  • NP_001289617.1:p.Glu153=
  • NP_001289618.1:p.Glu127=
  • NP_001289619.1:p.Glu127=
  • NP_001289620.1:p.Glu127=
  • NC_000019.9:g.45411934G>A
  • NM_000041.2:c.381G>A
  • NM_000041.3:c.381G>A
Links:
dbSNP: rs773391883
NCBI 1000 Genomes Browser:
rs773391883
Molecular consequence:
  • NM_000041.4:c.381G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001302688.2:c.459G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001302689.2:c.381G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001302690.2:c.381G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001302691.2:c.381G>A - 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
SCV002623761Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 16, 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, SCV002623761.2

#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: Sep 29, 2024