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NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe) AND Alzheimer disease 3

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 17, 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:
RCV000625969.2

Allele description [Variation Report for NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe)]

NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe)

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.1141C>T (p.Leu381Phe)
HGVS:
  • NC_000014.9:g.73217137C>T
  • NG_007386.2:g.85667C>T
  • NM_000021.4:c.1141C>TMANE SELECT
  • NM_007318.3:c.1129C>T
  • NP_000012.1:p.Leu381Phe
  • NP_015557.2:p.Leu377Phe
  • LRG_224t1:c.1141C>T
  • LRG_224:g.85667C>T
  • LRG_224p1:p.Leu381Phe
  • NC_000014.8:g.73683845C>T
  • NM_000021.3:c.1141C>T
  • p.L381F
Protein change:
L377F; LEU381PHE
Links:
OMIM: 104311.0039; dbSNP: rs63750687
NCBI 1000 Genomes Browser:
rs63750687
Molecular consequence:
  • NM_000021.4:c.1141C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007318.3:c.1129C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Alzheimer disease 3 (AD3)
Synonyms:
Alzheimer disease early onset type 3; ALZHEIMER DISEASE, FAMILIAL, 3
Identifiers:
MONDO: MONDO:0011913; MedGen: C1843013; Orphanet: 1020; OMIM: 607822

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000746567Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Nov 17, 2017)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Whiteunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

Dolzhanskaya N, Gonzalez MA, Sperziani F, Stefl S, Messing J, Wen GY, Alexov E, Zuchner S, Velinov M.

J Alzheimers Dis. 2014;39(1):23-7. doi: 10.3233/JAD-131340.

PubMed [citation]
PMID:
24121961
PMCID:
PMC4013718

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV000746567.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1White1not providednot providedclinical testing
(GTR000553916.1)
PubMed (2)

Description

Variant found to segregate in proband's affected father, uncles, grandfather. The family has been published by another group in PMID:24121961.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided
(GTR000553916.1)
1not providednot providednot provided

Last Updated: Sep 29, 2024