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

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 4, 2021)
Last evaluated:
May 1, 2018
Accession:
VCV000008849.6
Variation ID:
8849
Description:
single nucleotide variant
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NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro)

Allele ID
23888
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q42.13
Genomic location
1: 226885545 (GRCh38) GRCh38 UCSC
1: 227073246 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.227073246A>C
NC_000001.11:g.226885545A>C
NM_000447.3:c.364A>C MANE Select NP_000438.2:p.Thr122Pro missense
... more HGVS
Protein change
T122P
Other names
-
Canonical SPDI
NC_000001.11:226885544:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA224950
UniProtKB: P49810#VAR_009214
OMIM: 600759.0005
dbSNP: rs63749851
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts May 1, 2018 RCV000084260.2
Pathogenic 1 no assertion criteria provided Jan 1, 2000 RCV000009397.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PSEN2 - - GRCh38
GRCh37
156 189

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001250072.5
Submitted: (Jul 04, 2021)
Evidence details
Likely pathogenic
(May 03, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000614833.1
Submitted: (Aug 17, 2017)
Evidence details
Publications
PubMed (8)
Pathogenic
(Jan 01, 2000)
no assertion criteria provided
Method: literature only
ALZHEIMER DISEASE, FAMILIAL, 4
Allele origin: germline
OMIM
Accession: SCV000029615.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
VIB Department of Molecular Genetics, University of Antwerp
Accession: SCV000116396.1
Submitted: (Feb 13, 2013)
Comment:
http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg18&id=ADM_76
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. Lanoiselée HM PLoS medicine 2017 PMID: 28350801
Computational Screening and Exploration of Disease-Associated Genes in Alzheimer's Disease. Jamal S Journal of cellular biochemistry 2017 PMID: 27883225
Restricted Location of PSEN2/γ-Secretase Determines Substrate Specificity and Generates an Intracellular Aβ Pool. Sannerud R Cell 2016 PMID: 27293189
Novel mutations and repeated findings of mutations in familial Alzheimer disease. Finckh U Neurogenetics 2005 PMID: 15776278
Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios. Walker ES Journal of neurochemistry 2005 PMID: 15663477
Distinct mechanisms by mutant presenilin 1 and 2 leading to increased intracellular levels of amyloid beta-protein 42 in Chinese hamster ovary cells. Qi Y Biochemistry 2003 PMID: 12549925
High frequency of mutations in four different disease genes in early-onset dementia. Finckh U Annals of the New York Academy of Sciences 2000 PMID: 11193137
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. Finckh U American journal of human genetics 2000 PMID: 10631141

Text-mined citations for rs63749851...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 10, 2021