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

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:
RCV000710589.17

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:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000840831Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Benign
(Nov 28, 2017) 		germlineclinical testing

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

SCV002544657CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Benign
(Aug 1, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV002544657.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

APP: PP3, BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Jun 17, 2024