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NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser) AND Alzheimer disease 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 14, 2000
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:
RCV000019772.28

Allele description [Variation Report for NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser)]

NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser)

Gene:
PSEN1:presenilin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.2
Genomic location:
Preferred name:
NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser)
HGVS:
  • NC_000014.9:g.73170984G>C
  • NG_007386.2:g.39514G>C
  • NM_000021.4:c.275G>CMANE SELECT
  • NM_007318.3:c.263G>C
  • NP_000012.1:p.Cys92Ser
  • NP_015557.2:p.Cys88Ser
  • LRG_224t1:c.275G>C
  • LRG_224:g.39514G>C
  • LRG_224p1:p.Cys92Ser
  • NC_000014.8:g.73637692G>C
  • P49768:p.Cys92Ser
Protein change:
C88S; CYS92SER
Links:
UniProtKB: P49768#VAR_016214; OMIM: 104311.0020; dbSNP: rs63751141
NCBI 1000 Genomes Browser:
rs63751141
Molecular consequence:
  • NM_000021.4:c.275G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007318.3:c.263G>C - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000040070OMIM
no assertion criteria provided
Pathogenic
(Oct 14, 2000) 		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

The presenilin 1 C92S mutation increases abeta 42 production.

Lewis PA, Perez-Tur J, Golde TE, Hardy J.

Biochem Biophys Res Commun. 2000 Oct 14;277(1):261-3.

PubMed [citation]
PMID:
11027672

Details of each submission

From OMIM, SCV000040070.2

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

Description

Lewis et al. (2000) showed that cys92-to-ser (C92S), the PS1 homolog of the C. elegans sel-12 loss of function mutation cys60 to ser, increased amyloid beta-42 production when expressed in a neuroglioma cell line, similar to other pathogenic PS1 mutations. They noted, but did not cite, a report identifying C92S as the pathogenic mutation in an Italian family with familial Alzheimer disease (AD3; 607822). The results suggested that all FAD-linked PS1 mutations result in increased amyloid beta-42 production through a partial loss of function mechanism.

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

Last Updated: Aug 5, 2023