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NC_000001.11:g.(?_226881888)_(226895599_?)del AND Alzheimer disease 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 22, 2017
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:
RCV000641034.6

Allele description [Variation Report for NC_000001.11:g.(?_226881888)_(226895599_?)del]

NC_000001.11:g.(?_226881888)_(226895599_?)del

Genes:
LOC129932680:ATAC-STARR-seq lymphoblastoid active region 2673 [Gene]
LOC129388763:MPRA-validated peak736 silencer [Gene]
PSEN2:presenilin 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q42.13
Genomic location:
Preferred name:
NC_000001.11:g.(?_226881888)_(226895599_?)del
HGVS:
  • NC_000001.11:g.(?_226881888)_(226895599_?)del
  • NC_000001.10:g.(?_227069589)_(227083300_?)del

Condition(s)

Name:
Alzheimer disease 4 (AD4)
Synonyms:
Alzheimer disease familial type 4
Identifiers:
MONDO: MONDO:0011743; MedGen: C1847200; Orphanet: 1020; OMIM: 606889

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000762652Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 22, 2017) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.

Jayadev S, Leverenz JB, Steinbart E, Stahl J, Klunk W, Yu CE, Bird TD.

Brain. 2010 Apr;133(Pt 4):1143-54. doi: 10.1093/brain/awq033.

PubMed [citation]
PMID:
20375137
PMCID:
PMC2850581

Novel presenilin mutations within Moroccan patients with Early-Onset Alzheimer's Disease.

El Kadmiri N, Zaid N, Zaid Y, Tadevosyan A, Hachem A, Dubé MP, Hamzi K, El Moutawakil B, Slassi I, Nadifi S.

Neuroscience. 2014 Jun 6;269:215-22. doi: 10.1016/j.neuroscience.2014.03.052. Epub 2014 Apr 4.

PubMed [citation]
PMID:
24704512
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000762652.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PSEN2 are known to be pathogenic (PMID: 20375137, 24704512, 18834536). This variant has not been reported in the literature in individuals with PSEN2-related disease. A gross deletion of the genomic region encompassing the full coding sequence of the PSEN2 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes.

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

Last Updated: Sep 29, 2024