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NM_000021.4(PSEN1):c.438G>T (p.Met146Ile) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Nov 30, 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:
RCV000084311.3

Allele description [Variation Report for NM_000021.4(PSEN1):c.438G>T (p.Met146Ile)]

NM_000021.4(PSEN1):c.438G>T (p.Met146Ile)

Gene:
PSEN1:presenilin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.2
Genomic location:
Preferred name:
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile)
HGVS:
  • NC_000014.9:g.73173665G>T
  • NG_007386.2:g.42195G>T
  • NM_000021.4:c.438G>TMANE SELECT
  • NM_007318.3:c.426G>T
  • NP_000012.1:p.Met146Ile
  • NP_015557.2:p.Met142Ile
  • LRG_224t1:c.438G>T
  • LRG_224:g.42195G>T
  • LRG_224p1:p.Met146Ile
  • NC_000014.8:g.73640373G>T
  • NM_000021.3:c.438G>T
  • P49768:p.Met146Ile
Protein change:
M142I
Links:
UniProtKB: P49768#VAR_006425; dbSNP: rs63750391
NCBI 1000 Genomes Browser:
rs63750391
Molecular consequence:
  • NM_000021.4:c.438G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007318.3:c.426G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000116447VIB Department of Molecular Genetics, University of Antwerp
no classification provided
not providedunknownnot provided

SCV000614822Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
Pathogenic
(Nov 30, 2016)
germlineclinical testing

PubMed (13)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Mean age of onset in familial Alzheimer's disease is determined by amyloid beta 42.

Duering M, Grimm MO, Grimm HS, Schröder J, Hartmann T.

Neurobiol Aging. 2005 Jun;26(6):785-8.

PubMed [citation]
PMID:
15718035

Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer's disease.

Ryan NS, Keihaninejad S, Shakespeare TJ, Lehmann M, Crutch SJ, Malone IB, Thornton JS, Mancini L, Hyare H, Yousry T, Ridgway GR, Zhang H, Modat M, Alexander DC, Rossor MN, Ourselin S, Fox NC.

Brain. 2013 May;136(Pt 5):1399-414. doi: 10.1093/brain/awt065. Epub 2013 Mar 28.

PubMed [citation]
PMID:
23539189
PMCID:
PMC3634199
See all PubMed Citations (13)

Details of each submission

From VIB Department of Molecular Genetics, University of Antwerp, SCV000116447.1

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

From Athena Diagnostics, SCV000614822.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (13)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024