NM_000021.4(PSEN1):c.438G>T (p.Met146Ile) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 30, 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:: RCV000084311.3

Allele description [Variation Report for NM_000021.4(PSEN1):c.438G>T (p.Met146Ile)]

NM_000021.4(PSEN1):c.438G>T (p.Met146Ile)

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.438G>T (p.Met146Ile)

HGVS:

NC_000014.9:g.73173665G>T
NG_007386.2:g.42195G>T
NM_000021.4:c.438G>TMANE SELECT
NM_007318.3:c.426G>T
NP_000012.1:p.Met146Ile
NP_015557.2:p.Met142Ile
LRG_224t1:c.438G>T
LRG_224:g.42195G>T
LRG_224p1:p.Met146Ile
NC_000014.8:g.73640373G>T
NM_000021.3:c.438G>T
P49768:p.Met146Ile

Protein change:

M142I

Links:

UniProtKB: P49768#VAR_006425; dbSNP: rs63750391

NCBI 1000 Genomes Browser:

rs63750391

Molecular consequence:

NM_000021.4:c.438G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007318.3:c.426G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000116447	VIB Department of Molecular Genetics, University of Antwerp	no classification provided	not provided	unknown	not provided
SCV000614822	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Nov 30, 2016)	germline	clinical testing	PubMed (13) [See all records that cite these PMIDs] 15718035, 23539189, 9811326, 27540966, 27622770, 27777022, 20634584, 22306804, 16534109, 17493013, 11395394, 11126202, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000116447

VIB Department of Molecular Genetics, University of Antwerp

no classification provided

not provided

unknown

not provided

SCV000614822

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Nov 30, 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

Mean age of onset in familial Alzheimer's disease is determined by amyloid beta 42.

Duering M, Grimm MO, Grimm HS, Schröder J, Hartmann T.

Neurobiol Aging. 2005 Jun;26(6):785-8.

PubMed [citation]

PMID:: 15718035

Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer's disease.

Ryan NS, Keihaninejad S, Shakespeare TJ, Lehmann M, Crutch SJ, Malone IB, Thornton JS, Mancini L, Hyare H, Yousry T, Ridgway GR, Zhang H, Modat M, Alexander DC, Rossor MN, Ourselin S, Fox NC.

Brain. 2013 May;136(Pt 5):1399-414. doi: 10.1093/brain/awt065. Epub 2013 Mar 28.

PubMed [citation]

PMID:: 23539189
PMCID:: PMC3634199

See all PubMed Citations (13)

Details of each submission

From VIB Department of Molecular Genetics, University of Antwerp, SCV000116447.1

#	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	unknown	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Athena Diagnostics, SCV000614822.1

#	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: Sep 29, 2024

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