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NM_000484.4(APP):c.2137G>A (p.Ala713Thr) AND not provided

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
May 15, 2024
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:
RCV000084566.6

Allele description [Variation Report for NM_000484.4(APP):c.2137G>A (p.Ala713Thr)]

NM_000484.4(APP):c.2137G>A (p.Ala713Thr)

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.2137G>A (p.Ala713Thr)
HGVS:
  • NC_000021.9:g.25891796C>T
  • NG_007376.2:g.284333G>A
  • NM_000484.4:c.2137G>AMANE SELECT
  • NM_001136016.3:c.2065G>A
  • NM_001136129.3:c.1744G>A
  • NM_001136130.3:c.1969G>A
  • NM_001136131.3:c.1807G>A
  • NM_001204301.2:c.2083G>A
  • NM_001204302.2:c.2026G>A
  • NM_001204303.2:c.1858G>A
  • NM_001385253.1:c.1969G>A
  • NM_201413.3:c.2080G>A
  • NM_201414.3:c.1912G>A
  • NP_000475.1:p.Ala713Thr
  • NP_001129488.1:p.Ala689Thr
  • NP_001129601.1:p.Ala582Thr
  • NP_001129602.1:p.Ala657Thr
  • NP_001129603.1:p.Ala603Thr
  • NP_001191230.1:p.Ala695Thr
  • NP_001191231.1:p.Ala676Thr
  • NP_001191232.1:p.Ala620Thr
  • NP_001372182.1:p.Ala657Thr
  • NP_958816.1:p.Ala694Thr
  • NP_958817.1:p.Ala638Thr
  • NC_000021.8:g.27264108C>T
  • NG_007376.1:g.284025G>A
  • NM_000484.3:c.2137G>A
  • P05067:p.Ala713Thr
Protein change:
A582T; ALA713THR
Links:
UniProtKB: P05067#VAR_000019; OMIM: 104760.0009; dbSNP: rs63750066
NCBI 1000 Genomes Browser:
rs63750066
Molecular consequence:
  • NM_000484.4:c.2137G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136016.3:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136129.3:c.1744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136130.3:c.1969G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136131.3:c.1807G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204301.2:c.2083G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204302.2:c.2026G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204303.2:c.1858G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385253.1:c.1969G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201413.3:c.2080G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201414.3:c.1912G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000116702VIB Department of Molecular Genetics, University of Antwerp
no classification provided
not providednot providednot provided

SCV001143037Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		likely pathogenic
(May 15, 2024) 		unknownclinical testing

PubMed (20)
[See all records that cite these PMIDs]

Description

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

More missense in amyloid gene.

Carter DA, Desmarais E, Bellis M, Campion D, Clerget-Darpoux F, Brice A, Agid Y, Jaillard-Serradt A, Mallet J.

Nat Genet. 1992 Dec;2(4):255-6. No abstract available.

PubMed [citation]
PMID:
1303275

A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene.

Rossi G, Giaccone G, Maletta R, Morbin M, Capobianco R, Mangieri M, Giovagnoli AR, Bizzi A, Tomaino C, Perri M, Di Natale M, Tagliavini F, Bugiani O, Bruni AC.

Neurology. 2004 Sep 14;63(5):910-2.

PubMed [citation]
PMID:
15365148
See all PubMed Citations (20)

Details of each submission

From VIB Department of Molecular Genetics, University of Antwerp, SCV000116702.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From Athena Diagnostics, SCV001143037.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (20)

Description

While the frequency of this variant in the general population is higher than would generally be expected for pathogenic variants in this gene, it is statistically more frequent in affected individuals than in the general population and/or healthy controls (http://gnomad.broadinstitute.org, PMID: 1303275, 19363265, 26803359, 29859640, 30279455, 32917274). This variant has been identified in at least one individual with clinical features associated with this gene. This variant associates with disease in multiple families. Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 29459625, 32087291)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024