U.S. flag

An official website of the United States government

NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 13, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Help
Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000084295.2

Allele description [Variation Report for NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)]

NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)

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.344A>G (p.Tyr115Cys)
HGVS:
  • NC_000014.9:g.73173571A>G
  • NG_007386.2:g.42101A>G
  • NM_000021.4:c.344A>GMANE SELECT
  • NM_007318.3:c.332A>G
  • NP_000012.1:p.Tyr115Cys
  • NP_015557.2:p.Tyr111Cys
  • LRG_224t1:c.344A>G
  • LRG_224:g.42101A>G
  • LRG_224p1:p.Tyr115Cys
  • NC_000014.8:g.73640279A>G
  • NM_000021.3:c.344A>G
  • P49768:p.Tyr115Cys
Protein change:
Y111C
Links:
UniProtKB: P49768#VAR_006416; dbSNP: rs63750450
NCBI 1000 Genomes Browser:
rs63750450
Molecular consequence:
  • NM_000021.4:c.344A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007318.3:c.332A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000116431VIB Department of Molecular Genetics, University of Antwerpno assertion providednot providednot providednot provided

SCV000843414Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(Nov 13, 2015) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Description

Summary from all submissions

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

Citations

PubMed

A population-based study of familial Alzheimer disease: linkage to chromosomes 14, 19, and 21.

van Duijn CM, Hendriks L, Farrer LA, Backhovens H, Cruts M, Wehnert A, Hofman A, Van Broeckhoven C.

Am J Hum Genet. 1994 Oct;55(4):714-27.

PubMed [citation]
PMID:
7942850
PMCID:
PMC1918296

Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.

Rogaeva EA, Fafel KC, Song YQ, Medeiros H, Sato C, Liang Y, Richard E, Rogaev EI, Frommelt P, Sadovnick AD, Meschino W, Rockwood K, Boss MA, Mayeux R, St George-Hyslop P.

Neurology. 2001 Aug 28;57(4):621-5.

PubMed [citation]
PMID:
11524469
See all PubMed Citations (8)

Details of each submission

From VIB Department of Molecular Genetics, University of Antwerp, SCV000116431.1

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

From Athena Diagnostics Inc, SCV000843414.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 7, 2023