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NC_000014.9:g.73136423C>T AND Early-onset autosomal dominant Alzheimer disease

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000314754.13

Allele description [Variation Report for NC_000014.9:g.73136423C>T]

NC_000014.9:g.73136423C>T

Gene:
PSEN1:presenilin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.2
Genomic location:
Preferred name:
NC_000014.9:g.73136423C>T
HGVS:
  • NC_000014.9:g.73136423C>T
  • NG_007386.2:g.4953C>T
  • NG_190463.1:g.237C>T
  • LRG_224:g.4953C>T
  • NC_000014.8:g.73603131C>T
  • NM_000021.3:c.-296C>T
Links:
dbSNP: rs1800839
NCBI 1000 Genomes Browser:
rs1800839

Condition(s)

Name:
Early-onset autosomal dominant Alzheimer disease
Synonyms:
Early-Onset Familial Alzheimer Disease
Identifiers:
MONDO: MONDO:0015140; MedGen: CN043596

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000483490Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

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

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

The -48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Abeta load in brain.

Lambert JC, Mann DM, Harris JM, Chartier-Harlin MC, Cumming A, Coates J, Lemmon H, StClair D, Iwatsubo T, Lendon C.

J Med Genet. 2001 Jun;38(6):353-5.

PubMed [citation]
PMID:
11389157
PMCID:
PMC1734889

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000483490.2

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

Last Updated: Nov 3, 2024