NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) AND Alzheimer disease

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 24, 2013
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:: RCV000172094.3

Allele description [Variation Report for NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)]

NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)

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.104G>A (p.Arg35Gln)

HGVS:

NC_000014.9:g.73170813G>A
NG_007386.2:g.39343G>A
NM_000021.4:c.104G>AMANE SELECT
NM_007318.3:c.92G>A
NP_000012.1:p.Arg35Gln
NP_015557.2:p.Arg31Gln
LRG_224t1:c.104G>A
LRG_224:g.39343G>A
LRG_224p1:p.Arg35Gln
NC_000014.8:g.73637521G>A
NM_000021.3:c.104G>A
P49768:p.Arg35Gln

Protein change:

R31Q

Links:

UniProtKB: P49768#VAR_075260; dbSNP: rs63750592

NCBI 1000 Genomes Browser:

rs63750592

Molecular consequence:

NM_000021.4:c.104G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007318.3:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Alzheimer disease
Synonyms:: Presenile and senile dementia; Alzheimer's disease
Identifiers:: MONDO: MONDO:0004975; MeSH: D000544; MedGen: C0002395; Orphanet: 1020; Human Phenotype Ontology: HP:0002511

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
SCV000054832	Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq	criteria provided, single submitter (Ng et al. (Circ Cardiovasc Genet. 2013))	Uncertain significance (Jun 24, 2013)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000054832

Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq

criteria provided, single submitter

(Ng et al. (Circ Cardiovasc Genet. 2013))

Uncertain significance
(Jun 24, 2013)

unknown

research

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	unknown	unknown	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]

PMID:: 23861362
PMCID:: PMC3887521

Details of each submission

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000054832.1

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

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

Last Updated: Sep 1, 2024

ClinVar

Relating variation to medicine