NM_000021.4(PSEN1):c.438G>C (p.Met146Ile) AND Alzheimer disease 3

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV004525816.1

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

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

HGVS:

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

Protein change:

M142I

Links:

OMIM: 104311.0015; dbSNP: rs63750391

NCBI 1000 Genomes Browser:

rs63750391

Molecular consequence:

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

Condition(s)

Name:: Alzheimer disease 3 (AD3)
Synonyms:: Alzheimer disease early onset type 3; ALZHEIMER DISEASE, FAMILIAL, 3
Identifiers:: MONDO: MONDO:0011913; MedGen: C1843013; Orphanet: 1020; OMIM: 607822

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005016524	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005016524

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no classification provided

not provided

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A 50-year perspective of a family with chromosome-14-linked Alzheimer's disease.

Gustafson L, Brun A, Englund E, Hagnell O, Nilsson K, Stensmyr M, Ohlin AK, Abrahamson M.

Hum Genet. 1998 Mar;102(3):253-7.

PubMed [citation]

PMID:: 9544835

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV005016524.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine