U.S. flag

An official website of the United States government

NM_000484.4(APP):c.1995G>C (p.Glu665Asp) AND Alzheimer disease type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 1994
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000019722.31

Allele description [Variation Report for NM_000484.4(APP):c.1995G>C (p.Glu665Asp)]

NM_000484.4(APP):c.1995G>C (p.Glu665Asp)

Gene:
APP:amyloid beta precursor protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q21.3
Genomic location:
Preferred name:
NM_000484.4(APP):c.1995G>C (p.Glu665Asp)
HGVS:
  • NC_000021.9:g.25897642C>G
  • NG_007376.2:g.278487G>C
  • NM_000484.4:c.1995G>CMANE SELECT
  • NM_001136016.3:c.1923G>C
  • NM_001136129.3:c.1602G>C
  • NM_001136130.3:c.1827G>C
  • NM_001136131.3:c.1665G>C
  • NM_001204301.2:c.1941G>C
  • NM_001204302.2:c.1884G>C
  • NM_001204303.2:c.1716G>C
  • NM_001385253.1:c.1827G>C
  • NM_201413.3:c.1938G>C
  • NM_201414.3:c.1770G>C
  • NP_000475.1:p.Glu665Asp
  • NP_001129488.1:p.Glu641Asp
  • NP_001129601.1:p.Glu534Asp
  • NP_001129602.1:p.Glu609Asp
  • NP_001129603.1:p.Glu555Asp
  • NP_001191230.1:p.Glu647Asp
  • NP_001191231.1:p.Glu628Asp
  • NP_001191232.1:p.Glu572Asp
  • NP_001372182.1:p.Glu609Asp
  • NP_958816.1:p.Glu646Asp
  • NP_958817.1:p.Glu590Asp
  • NC_000021.8:g.27269954C>G
  • NG_007376.1:g.278179G>C
  • NM_000484.3:c.1995G>C
  • P05067:p.Glu665Asp
Protein change:
E534D; GLU665ASP
Links:
UniProtKB: P05067#VAR_010107; OMIM: 104760.0010; dbSNP: rs63750363
NCBI 1000 Genomes Browser:
rs63750363
Molecular consequence:
  • NM_000484.4:c.1995G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136016.3:c.1923G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136129.3:c.1602G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136130.3:c.1827G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136131.3:c.1665G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204301.2:c.1941G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204302.2:c.1884G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204303.2:c.1716G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385253.1:c.1827G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201413.3:c.1938G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201414.3:c.1770G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Alzheimer disease type 1 (AD1)
Synonyms:
ALZHEIMER DISEASE, FAMILIAL, 1; ALZHEIMER DISEASE, FAMILIAL, 1, AUTOSOMAL RECESSIVE
Identifiers:
MONDO: MONDO:0007088; MedGen: C1863052; OMIM: 104300

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000040020OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 1994) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel amyloid precursor protein gene mutation (codon 665Asp) in a patient with late-onset Alzheimer's disease.

Peacock ML, Murman DL, Sima AA, Warren JT Jr, Roses AD, Fink JK.

Ann Neurol. 1994 Apr;35(4):432-8.

PubMed [citation]
PMID:
8154870

Details of each submission

From OMIM, SCV000040020.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Peacock et al. (1994) used reverse transcription-polymerase chain reaction, denaturing gradient gel electrophoresis, and direct DNA sequencing to analyze APP exons 16 and 17 from patients with histologically confirmed Alzheimer disease (104300). One patient, who died at age 92, was found to have a 2119C-G transversion, resulting in a glu665-to-asp (E665D) substitution. A sister had died with dementia between 80 and 85 years of age. The same mutation was present in a nondemented relative older than 65 years. Thus, although the mutation was not found in 40 control subjects and 127 dementia patients, its relationship to Alzheimer disease was uncertain. Hitherto, no evidence had been forthcoming that APP mutations are involved in late-onset or sporadic Alzheimer disease.

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

Last Updated: Feb 20, 2024