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NM_000041.4(APOE):c.833G>T (p.Arg278Leu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 8, 2023
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:
RCV004338068.1

Allele description [Variation Report for NM_000041.4(APOE):c.833G>T (p.Arg278Leu)]

NM_000041.4(APOE):c.833G>T (p.Arg278Leu)

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.833G>T (p.Arg278Leu)
HGVS:
  • NC_000019.10:g.44909129G>T
  • NG_007084.2:g.8348G>T
  • NM_000041.4:c.833G>TMANE SELECT
  • NM_001302688.2:c.911G>T
  • NM_001302689.2:c.833G>T
  • NM_001302690.2:c.833G>T
  • NM_001302691.2:c.833G>T
  • NP_000032.1:p.Arg278Leu
  • NP_001289617.1:p.Arg304Leu
  • NP_001289618.1:p.Arg278Leu
  • NP_001289619.1:p.Arg278Leu
  • NP_001289620.1:p.Arg278Leu
  • NC_000019.9:g.45412386G>T
  • NM_000041.2:c.833G>T
Protein change:
R278L
Molecular consequence:
  • NM_000041.4:c.833G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302688.2:c.911G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302689.2:c.833G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302690.2:c.833G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302691.2:c.833G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004067199Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 8, 2023) 		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, SCV004067199.2

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

Description

The c.833G>T (p.R278L) alteration is located in exon 4 (coding exon 3) of the APOE gene. This alteration results from a G to T substitution at nucleotide position 833, causing the arginine (R) at amino acid position 278 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 26, 2024