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NM_000021.4(PSEN1):c.709T>C (p.Phe237Leu) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 1, 2022
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:
RCV002243711.2

Allele description [Variation Report for NM_000021.4(PSEN1):c.709T>C (p.Phe237Leu)]

NM_000021.4(PSEN1):c.709T>C (p.Phe237Leu)

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.709T>C (p.Phe237Leu)
HGVS:
  • NC_000014.9:g.73192804T>C
  • NG_007386.2:g.61334T>C
  • NM_000021.4:c.709T>CMANE SELECT
  • NM_007318.3:c.697T>C
  • NP_000012.1:p.Phe237Leu
  • NP_015557.2:p.Phe233Leu
  • LRG_224t1:c.709T>C
  • LRG_224:g.61334T>C
  • LRG_224p1:p.Phe237Leu
  • NC_000014.8:g.73659512T>C
Protein change:
F233L
Links:
dbSNP: rs63750858
NCBI 1000 Genomes Browser:
rs63750858
Molecular consequence:
  • NM_000021.4:c.709T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007318.3:c.697T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Visual hallucination
Synonyms:
Visual hallucinations
Identifiers:
MedGen: C0233763; Human Phenotype Ontology: HP:0002367
Name:
Auditory hallucination
Synonyms:
Auditory hallucinations
Identifiers:
MedGen: C0233762; Human Phenotype Ontology: HP:0008765
Name:
Dementia
Identifiers:
MONDO: MONDO:0001627; MedGen: C0497327; Human Phenotype Ontology: HP:0000726

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002512196Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Feb 1, 2022)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002512196.1

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

Description

ACMG classification criteria: PS3 supporting, PS4 moderate, PM2 moderate, PM5 supporting, PP1, PP3 supporting

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

Last Updated: Nov 11, 2023