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NM_000021.4(PSEN1):c.811C>G (p.Leu271Val) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 28, 2019
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:
RCV000984888.3

Allele description [Variation Report for NM_000021.4(PSEN1):c.811C>G (p.Leu271Val)]

NM_000021.4(PSEN1):c.811C>G (p.Leu271Val)

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.811C>G (p.Leu271Val)
HGVS:
  • NC_000014.9:g.73198072C>G
  • NG_007386.2:g.66602C>G
  • NM_000021.4:c.811C>GMANE SELECT
  • NM_007318.3:c.799C>G
  • NP_000012.1:p.Leu271Val
  • NP_015557.2:p.Leu267Val
  • LRG_224t1:c.811C>G
  • LRG_224:g.66602C>G
  • LRG_224p1:p.Leu271Val
  • NC_000014.8:g.73664780C>G
  • NM_000021.3:c.811C>G
  • P49768:p.Leu271Val
Protein change:
L267V; LEU271VAL
Links:
UniProtKB: P49768#VAR_016220; OMIM: 104311.0026; dbSNP: rs63750886
NCBI 1000 Genomes Browser:
rs63750886
Molecular consequence:
  • NM_000021.4:c.811C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007318.3:c.799C>G - missense variant - [Sequence Ontology: SO:0001583]

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
Name:
Spastic paraparesis
Identifiers:
MedGen: C0037771; Human Phenotype Ontology: HP:0002313

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000995997Codex Genetics Limited
no assertion criteria provided
Pathogenic
(Feb 28, 2019) 		germlineprovider interpretation

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedprovider interpretation

Citations

PubMed

Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.

Kwok JB, Halliday GM, Brooks WS, Dolios G, Laudon H, Murayama O, Hallupp M, Badenhop RF, Vickers J, Wang R, Naslund J, Takashima A, Gandy SE, Schofield PR.

J Biol Chem. 2003 Feb 28;278(9):6748-54. Epub 2002 Dec 19.

PubMed [citation]
PMID:
12493737

Details of each submission

From Codex Genetics Limited, SCV000995997.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretation PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2023