NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Nov 2, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000084371.1

Allele description

NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser)

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.799C>T (p.Pro267Ser)

HGVS:

NC_000014.9:g.73198060C>T
NG_007386.2:g.66590C>T
NM_000021.4:c.799C>TMANE SELECT
NM_007318.3:c.787C>T
NP_000012.1:p.Pro267Ser
NP_015557.2:p.Pro263Ser
LRG_224t1:c.799C>T
LRG_224:g.66590C>T
LRG_224p1:p.Pro267Ser
NC_000014.8:g.73664768C>T
NM_000021.3:c.799C>T
P49768:p.Pro267Ser

Protein change:

P263S; PRO267SER

Links:

UniProtKB: P49768#VAR_006445; OMIM: 104311.0011; dbSNP: rs63751229

NCBI 1000 Genomes Browser:

rs63751229

Molecular consequence:

NM_000021.4:c.799C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007318.3:c.787C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Mitsuaria sp. H24L5A
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Chain C, Alcohol dehydrogenase
Chain C, Alcohol dehydrogenase
gi|49258749|pdb|1RJW|C

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000116507	VIB Department of Molecular Genetics, University of Antwerp	no classification provided	not provided	not provided	not provided
SCV000614828	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Likely pathogenic (Nov 2, 2016)	germline	clinical testing	PubMed (13) [See all records that cite these PMIDs] 26438723, 8733749, 10090481, 11124426, 9540849, 10594046, 11432849, 15718035, 16227967, 24304563, 17320044, 7550356, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000116507

VIB Department of Molecular Genetics, University of Antwerp

no classification provided

not provided

SCV000614828

Athena Diagnostics Inc

criteria provided, single submitter

(Athena Diagnostics Criteria)

Likely pathogenic
(Nov 2, 2016)

germline

clinical testing

PubMed (13)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Alzheimer's disease-causing proline substitutions lead to presenilin 1 aggregation and malfunction.

Ben-Gedalya T, Moll L, Bejerano-Sagie M, Frere S, Cabral WA, Friedmann-Morvinski D, Slutsky I, Burstyn-Cohen T, Marini JC, Cohen E.

EMBO J. 2015 Nov 12;34(22):2820-39. doi: 10.15252/embj.201592042. Epub 2015 Oct 5.

PubMed [citation]

PMID:: 26438723
PMCID:: PMC4682640

Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.

Hutton M, Busfield F, Wragg M, Crook R, Perez-Tur J, Clark RF, Prihar G, Talbot C, Phillips H, Wright K, Baker M, Lendon C, Duff K, Martinez A, Houlden H, Nichols A, Karran E, Roberts G, Roques P, Rossor M, Venter JC, Adams MD, et al.

Neuroreport. 1996 Feb 29;7(3):801-5.

PubMed [citation]

PMID:: 8733749

See all PubMed Citations (13)

Details of each submission

From VIB Department of Molecular Genetics, University of Antwerp, SCV000116507.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Athena Diagnostics Inc, SCV000614828.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (13)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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