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NM_000041.4(APOE):c.69G>A (p.Ala23=) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 17, 2021
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:
RCV002506687.2

Allele description [Variation Report for NM_000041.4(APOE):c.69G>A (p.Ala23=)]

NM_000041.4(APOE):c.69G>A (p.Ala23=)

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.69G>A (p.Ala23=)
HGVS:
  • NC_000019.10:g.44907785G>A
  • NG_007084.2:g.7004G>A
  • NM_000041.4:c.69G>AMANE SELECT
  • NM_001302688.2:c.147G>A
  • NM_001302689.2:c.69G>A
  • NM_001302690.2:c.69G>A
  • NM_001302691.2:c.69G>A
  • NP_000032.1:p.Ala23=
  • NP_001289617.1:p.Ala49=
  • NP_001289618.1:p.Ala23=
  • NP_001289619.1:p.Ala23=
  • NP_001289620.1:p.Ala23=
  • NC_000019.9:g.45411042G>A
  • NM_000041.2:c.69G>A
  • NM_000041.4:c.69G>A
Links:
dbSNP: rs111833428
NCBI 1000 Genomes Browser:
rs111833428
Molecular consequence:
  • NM_000041.4:c.69G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001302688.2:c.147G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001302689.2:c.69G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001302690.2:c.69G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001302691.2:c.69G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Alzheimer disease 3 (AD3)
Synonyms:
Alzheimer disease early onset type 3; ALZHEIMER DISEASE, FAMILIAL, 3
Identifiers:
MONDO: MONDO:0011913; MedGen: C1843013; Orphanet: 1020; OMIM: 607822
Name:
Alzheimer disease 2 (AD2)
Synonyms:
ALZHEIMER DISEASE 2, LATE-ONSET; ALZHEIMER DISEASE ASSOCIATED WITH APOE4; Alzheimer disease associated with APOE E4; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007089; MedGen: C1863051; Orphanet: 1020; OMIM: 104310
Name:
Alzheimer disease 4 (AD4)
Synonyms:
Alzheimer disease familial type 4
Identifiers:
MONDO: MONDO:0011743; MedGen: C1847200; Orphanet: 1020; OMIM: 606889
Name:
Age related macular degeneration 1
Synonyms:
MACULOPATHY, AGE-RELATED, 1
Identifiers:
MONDO: MONDO:0011285; MedGen: C1864205; OMIM: 603075
Name:
Sea-blue histiocyte syndrome
Synonyms:
Sea-Blue histiocyte disease; Sea-blue histiocytosis
Identifiers:
MONDO: MONDO:0010017; MedGen: C0036489; Orphanet: 158029; OMIM: 269600; Human Phenotype Ontology: HP:0001982
Name:
Lipoprotein glomerulopathy (LPG)
Identifiers:
MONDO: MONDO:0012725; MedGen: C2673196; Orphanet: 329481; OMIM: 611771
Name:
Familial type 3 hyperlipoproteinemia
Synonyms:
Hyperlipoproteinemia type 3; Hyperlipoproteinemia type III; Dysbetalipoproteinemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018473; MedGen: C0020479; OMIM: 617347

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002810846Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Dec 17, 2021) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002810846.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2024