NM_000484.4(APP):c.1795G>A (p.Glu599Lys) AND not provided

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

Germline classification:: Benign (2 submissions)
Last evaluated:: Aug 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000710589.15

Allele description

NM_000484.4(APP):c.1795G>A (p.Glu599Lys)

Gene:

APP:amyloid beta precursor protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q21.3

Genomic location:

Preferred name:

NM_000484.4(APP):c.1795G>A (p.Glu599Lys)

HGVS:

NC_000021.9:g.25911855C>T
NG_007376.2:g.264274G>A
NM_000484.4:c.1795G>AMANE SELECT
NM_001136016.3:c.1723G>A
NM_001136129.3:c.1402G>A
NM_001136130.3:c.1627G>A
NM_001136131.3:c.1465G>A
NM_001204301.2:c.1795G>A
NM_001204302.2:c.1738G>A
NM_001204303.2:c.1570G>A
NM_001385253.1:c.1627G>A
NM_201413.3:c.1738G>A
NM_201414.3:c.1570G>A
NP_000475.1:p.Glu599Lys
NP_001129488.1:p.Glu575Lys
NP_001129601.1:p.Glu468Lys
NP_001129602.1:p.Glu543Lys
NP_001129603.1:p.Glu489Lys
NP_001191230.1:p.Glu599Lys
NP_001191231.1:p.Glu580Lys
NP_001191232.1:p.Glu524Lys
NP_001372182.1:p.Glu543Lys
NP_958816.1:p.Glu580Lys
NP_958817.1:p.Glu524Lys
NC_000021.8:g.27284167C>T
NM_000484.3:c.1795G>A

Protein change:

E468K

Links:

dbSNP: rs140304729

NCBI 1000 Genomes Browser:

rs140304729

Molecular consequence:

NM_000484.4:c.1795G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001136016.3:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001136129.3:c.1402G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001136130.3:c.1627G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001136131.3:c.1465G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001204301.2:c.1795G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001204302.2:c.1738G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001204303.2:c.1570G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385253.1:c.1627G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201413.3:c.1738G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201414.3:c.1570G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000840831	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Nov 28, 2017)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 25104557, 26242991, 22312439, 25174650, 27312774, 25604855, 26467025
SCV002544657	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Aug 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000840831

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Nov 28, 2017)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

SCV002544657

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Benign
(Aug 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.

Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK, Troakes C, Al-Sarraj S, Niblock M, Gallo JM, Adnan J, Killick R, Brown KS, Medway C, Lord J, Turton J, Bras J; Alzheimer's Research UK Consortium., Morgan K, Powell JF, Singleton A, Hardy J.

Neurobiol Aging. 2014 Dec;35(12):2881.e1-2881.e6. doi: 10.1016/j.neurobiolaging.2014.06.002. Epub 2014 Jun 16.

PubMed [citation]

PMID:: 25104557
PMCID:: PMC4236585

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.

Nicolas G, Wallon D, Charbonnier C, Quenez O, Rousseau S, Richard AC, Rovelet-Lecrux A, Coutant S, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Munter HM, Bourque G, Auld D, Montpetit A, Lathrop M, Guyant-Maréchal L, Martinaud O, et al.

Eur J Hum Genet. 2016 May;24(5):710-6. doi: 10.1038/ejhg.2015.173. Epub 2015 Aug 5.

PubMed [citation]

PMID:: 26242991
PMCID:: PMC4930083

See all PubMed Citations (7)

Details of each submission

From Athena Diagnostics, SCV000840831.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV002544657.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

Description

APP: PP3, BS1, BS2

#	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		2	not provided	not provided	not provided

Last Updated: May 7, 2024

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