ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 2
- First in ClinVar:
- Feb 20, 2014
- Most recent Submission:
- May 15, 2017
- Last evaluated:
- Jun 15, 2004
- Accession:
- VCV000018150.1
- Variation ID:
- 18150
- Description:
- single nucleotide variant
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NM_000021.4(PSEN1):c.1307C>A (p.Pro436Gln)
- Allele ID
- 33189
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 14q24.2
- Genomic location
- 14: 73219192 (GRCh38) GRCh38 UCSC
- 14: 73685900 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000021.4:c.1307C>A MANE Select NP_000012.1:p.Pro436Gln missense NM_007318.3:c.1295C>A NP_015557.2:p.Pro432Gln missense NC_000014.9:g.73219192C>A NC_000014.8:g.73685900C>A NG_007386.2:g.87722C>A LRG_224:g.87722C>A LRG_224t1:c.1307C>A LRG_224p1:p.Pro436Gln P49768:p.Pro436Gln - Protein change
- P436Q, P432Q
- Other names
- -
- Canonical SPDI
- NC_000014.9:73219191:C:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- ClinGen: CA225518
- UniProtKB: P49768#VAR_006460
- OMIM: 104311.0028
- dbSNP: rs121917808
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | no assertion criteria provided | Jun 15, 2004 | RCV000019780.28 | |
| not provided | 1 | no assertion provided | - | RCV000084580.1 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Jun 15, 2004)
|
no assertion criteria provided
Method: literature only
|
ALZHEIMER DISEASE, FAMILIAL, 3
Affected status: not provided
Allele origin:
unknown
|
OMIM
Accession: SCV000040078.2
First in ClinVar: Apr 04, 2013 Last updated: May 15, 2017 |
Comment on evidence:
Beck et al. (2004) reported a patient with sporadic early-onset Alzheimer disease (AD3; 607822) who was a somatic mosaic for a 71111C-A transversion in exon … (more)
Beck et al. (2004) reported a patient with sporadic early-onset Alzheimer disease (AD3; 607822) who was a somatic mosaic for a 71111C-A transversion in exon 12 of the PSEN1 gene. The mutation, which had been described by Taddei et al. (1998), was predicted to result in substitution of glutamine at proline-436 (P436Q). The index patient presented at age 52 years with a 10-year history of progressive parkinsonian syndrome, spastic paraparesis, and dementia; she died 6 years later. The degree of mosaicism was 8% in peripheral lymphocytes and 14% in the cerebral cortex of the index patient. Her daughter, who presented at age 27 years with progressive cerebellar syndrome, spastic paraparesis, and dementia, was heterozygous for the mutation; she died 12 years after diagnosis. The authors hypothesized that mosaicism may be an important mechanism in the etiology of sporadic AD and other apparently sporadic neurodegenerative diseases such as Parkinson disease (see 168601), motor neuron disease, and Creutzfeldt-Jakob disease (123400). (less)
|
|
|
not provided
(-)
|
no assertion provided
Method: not provided
|
not provided
Affected status: not provided
Allele origin:
not provided
|
VIB Department of Molecular Genetics, University of Antwerp
Accession: SCV000116716.1
First in ClinVar: Feb 20, 2014 Last updated: Feb 20, 2014
Comment:
http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg18&id=ADM_70
|
|
Functional evidence
Help| 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
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease. | Beck JA | Human molecular genetics | 2004 | PMID: 15115757 |
| Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease. | Taddei K | Neuroreport | 1998 | PMID: 9831473 |
Text-mined citations for rs121917808...
HelpThese 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 Apr 25, 2022