NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) AND not provided

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

Germline classification:: Benign (2 submissions)
Last evaluated:: Sep 22, 2017
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:: RCV000084390.1

Allele description

NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly)

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.953A>G (p.Glu318Gly)

HGVS:

NC_000014.9:g.73206470A>G
NG_007386.2:g.75000A>G
NM_000021.4:c.953A>GMANE SELECT
NM_007318.3:c.941A>G
NP_000012.1:p.Glu318Gly
NP_015557.2:p.Glu314Gly
LRG_224t1:c.953A>G
LRG_224:g.75000A>G
LRG_224p1:p.Glu318Gly
NC_000014.8:g.73673178A>G
NM_000021.3:c.953A>G
P49768:p.Glu318Gly

Protein change:

E314G

Links:

UniProtKB: P49768#VAR_006454; dbSNP: rs17125721

NCBI 1000 Genomes Browser:

rs17125721

Molecular consequence:

NM_000021.4:c.953A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007318.3:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000116526	VIB Department of Molecular Genetics, University of Antwerp	no classification provided	not provided	not provided	not provided
SCV000843423	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Sep 22, 2017)	germline	clinical testing	PubMed (29) [See all records that cite these PMIDs] 27312774, 27357204, 27535542, 25937274, 12192622, 16952411, 27930341, 27644130, 26166206, 10643802, 20194882, 8773614, 9384602, 9851450, 9915968, 16216949, 16033913, 9851443, 18525293, 18350357, 19659892, 25333068, 23990795, 22810102, 19111578, 22906081, 21959359, 15003276, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000116526

VIB Department of Molecular Genetics, University of Antwerp

no classification provided

not provided

SCV000843423

Athena Diagnostics Inc

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Sep 22, 2017)

germline

clinical testing

PubMed (29)
[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

Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies.

Geiger JT, Ding J, Crain B, Pletnikova O, Letson C, Dawson TM, Rosenthal LS, Pantelyat A, Gibbs JR, Albert MS, Hernandez DG, Hillis AE, Stone DJ, Singleton AB; North American Brain Expression Consortium., Hardy JA, Troncoso JC, Scholz SW.

Neurobiol Dis. 2016 Oct;94:55-62. doi: 10.1016/j.nbd.2016.06.004. Epub 2016 Jun 14.

PubMed [citation]

PMID:: 27312774
PMCID:: PMC4983488

Presenilin E318G variant and Alzheimer's disease risk: the Cache County study.

Hippen AA, Ebbert MT, Norton MC, Tschanz JT, Munger RG, Corcoran CD, Kauwe JS.

BMC Genomics. 2016 Jun 29;17 Suppl 3:438. doi: 10.1186/s12864-016-2786-z.

PubMed [citation]

PMID:: 27357204
PMCID:: PMC4943516

See all PubMed Citations (29)

Details of each submission

From VIB Department of Molecular Genetics, University of Antwerp, SCV000116526.1

#	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, SCV000843423.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (29)

#	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 25, 2021

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