NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) AND Alzheimer disease, type 4

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2000)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000009397.3

Allele description [Variation Report for NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro)]

NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro)

Gene:
PSEN2:presenilin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.13
Genomic location:
Preferred name:
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro)
HGVS:
  • NC_000001.11:g.226885545A>C
  • NG_007381.1:g.19974A>C
  • NM_000447.3:c.364A>CMANE SELECT
  • NM_012486.2:c.364A>C
  • NP_000438.2:p.Thr122Pro
  • NP_036618.2:p.Thr122Pro
  • LRG_225t1:c.364A>C
  • LRG_225p1:p.Thr122Pro
  • NC_000001.10:g.227073246A>C
  • NM_000447.2:c.364A>C
  • P49810:p.Thr122Pro
Protein change:
T122P; THR122PRO
Links:
UniProtKB: P49810#VAR_009214; OMIM: 600759.0005; dbSNP: rs63749851
NCBI 1000 Genomes Browser:
rs63749851
Molecular consequence:
  • NM_000447.3:c.364A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012486.2:c.364A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Alzheimer disease, type 4 (AD4)
Synonyms:
Alzheimer disease familial type 4
Identifiers:
MONDO: MONDO:0011743; MedGen: C1847200; Orphanet: 1020; OMIM: 606889

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029615OMIMno assertion criteria providedPathogenic
(Jan 1, 2000)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.

Finckh U, Müller-Thomsen T, Mann U, Eggers C, Marksteiner J, Meins W, Binetti G, Alberici A, Hock C, Nitsch RM, Gal A.

Am J Hum Genet. 2000 Jan;66(1):110-7.

PubMed [citation]
PMID:
10631141
PMCID:
PMC1288316

Details of each submission

From OMIM, SCV000029615.2

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

Description

In 3 affected members of a family with early-onset AD (AD4; 606889), Finckh et al. (2000) identified a thr122-to-pro (T122P) mutation in the PSEN2 gene. The proband had disease onset at age 46 years. Her clinical course was similar to that of her mother and grandmother, both mutation carriers, who died at ages 48 and 51 years, respectively. Finckh et al. (2000) commented on the similar clinical phenotype and high penetrance of the T122P mutation.

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

Last Updated: Jul 10, 2021

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