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NM_000484.4(APP):c.2124C>T (p.Gly708=) AND APP POLYMORPHISM

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 1, 1992
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000019719.3

Allele description [Variation Report for NM_000484.4(APP):c.2124C>T (p.Gly708=)]

NM_000484.4(APP):c.2124C>T (p.Gly708=)

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.2124C>T (p.Gly708=)
HGVS:
  • NC_000021.9:g.25891809G>A
  • NG_007376.2:g.284320C>T
  • NM_000484.4:c.2124C>TMANE SELECT
  • NM_001136016.3:c.2052C>T
  • NM_001136129.3:c.1731C>T
  • NM_001136130.3:c.1956C>T
  • NM_001136131.3:c.1794C>T
  • NM_001204301.2:c.2070C>T
  • NM_001204302.2:c.2013C>T
  • NM_001204303.2:c.1845C>T
  • NM_001385253.1:c.1956C>T
  • NM_201413.3:c.2067C>T
  • NM_201414.3:c.1899C>T
  • NP_000475.1:p.Gly708=
  • NP_001129488.1:p.Gly684=
  • NP_001129601.1:p.Gly577=
  • NP_001129602.1:p.Gly652=
  • NP_001129603.1:p.Gly598=
  • NP_001191230.1:p.Gly690=
  • NP_001191231.1:p.Gly671=
  • NP_001191232.1:p.Gly615=
  • NP_001372182.1:p.Gly652=
  • NP_958816.1:p.Gly689=
  • NP_958817.1:p.Gly633=
  • NC_000021.8:g.27264121G>A
  • NM_000484.3:c.2124C>T
Nucleotide change:
2124C-T
Links:
OMIM: 104760.0007; dbSNP: rs148888161
NCBI 1000 Genomes Browser:
rs148888161
Molecular consequence:
  • NM_000484.4:c.2124C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001136016.3:c.2052C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001136129.3:c.1731C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001136130.3:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001136131.3:c.1794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001204301.2:c.2070C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001204302.2:c.2013C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001204303.2:c.1845C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001385253.1:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_201413.3:c.2067C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_201414.3:c.1899C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
APP POLYMORPHISM
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000040017OMIM
no assertion criteria provided
Benign
(Jul 1, 1992) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A novel mutation in the beta-protein coding region of the amyloid beta-protein precursor (APP) gene.

Balbín M, Abrahamson M, Gustafson L, Nilsson K, Brun A, Grubb A.

Hum Genet. 1992 Jul;89(5):580-2.

PubMed [citation]
PMID:
1634237

Details of each submission

From OMIM, SCV000040017.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 out of 12 AD patients, in 1 out of 60 non-AD patients, and in 1 out of 30 healthy persons, Balbin et al. (1992) identified a 2124C-T transition in exon 17 of the APP gene, resulting in a silent substitution at the protein level. The authors suggested that the variant could be used as a marker for linkage studies involving the APP gene.

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

Last Updated: Oct 8, 2024