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NM_000021.3(PSEN1):c.548G>T (p.Gly183Val) AND Pick's disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2004
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:
RCV000019779.27

Allele description

NM_000021.3(PSEN1):c.548G>T (p.Gly183Val)

Gene:
PSEN1:presenilin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.2
Genomic location:
Preferred name:
NM_000021.3(PSEN1):c.548G>T (p.Gly183Val)
HGVS:
  • NC_000014.9:g.73186920G>T
  • NG_007386.2:g.55450G>T
  • NM_000021.3:c.548G>T
  • NP_000012.1:p.Gly183Val
  • NC_000014.8:g.73653628G>T
  • NM_000021.2:c.548G>T
Protein change:
G183V; GLY183VAL
Links:
OMIM: 104311.0027; dbSNP: rs63751068
NCBI 1000 Genomes Browser:
rs63751068
Molecular consequence:
  • NM_000021.3:c.548G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pick's disease
Synonyms:
PICK DISEASE OF BRAIN; LOBAR ATROPHY OF BRAIN; Pick Disease of the Brain; See all synonyms [MedGen]
Identifiers:
MedGen: C0236642; Orphanet: 282; OMIM: 172700
Age of onset:
Adult
Prevalence:
1-9 / 100 000 282

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000040077OMIM
no assertion criteria provided
Pathogenic
(May 1, 2004) 		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

A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.

Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, Saerens J, Pickut BA, Peeters K, van den Broeck M, Vennekens K, Claes S, Cruts M, Cras P, Martin JJ, Van Broeckhoven C, De Deyn PP.

Ann Neurol. 2004 May;55(5):617-26.

PubMed [citation]
PMID:
15122701

Details of each submission

From OMIM, SCV000040077.1

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

Description

In a patient with Pick disease (172700), Dermaut et al. (2004) identified a G-to-T transversion in exon 6 of the PSEN1 gene, resulting in a gly183-to-val (G183V) substitution. The mutation occurs at a conserved residue within a splice signal. The mutation was not detected in more than 1,000 patients with dementia and normal controls. Four sibs of the proband had the mutation; 1 was clearly affected and 3 other showed evidence compatible with cognitive deterioration or early-stage cognitive decline. Neuropathologic examination of the proband showed tau (MAPT; 157140)-immunoreactive Pick bodies without beta-amyloid plaques. Dermaut et al. (2004) suggested that the G183V mutation results in a partial loss of function of the PSEN1 protein.

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

Last Updated: May 7, 2017