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NM_000021.4(PSEN1):c.1053_1055dup (p.Arg352dup) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000084391.1

Allele description [Variation Report for NM_000021.4(PSEN1):c.1053_1055dup (p.Arg352dup)]

NM_000021.4(PSEN1):c.1053_1055dup (p.Arg352dup)

Gene:
PSEN1:presenilin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
14q24.2
Genomic location:
Preferred name:
NM_000021.4(PSEN1):c.1053_1055dup (p.Arg352dup)
HGVS:
  • NC_000014.9:g.73211866_73211868dup
  • NG_007386.2:g.80396_80398dup
  • NM_000021.4:c.1053_1055dupMANE SELECT
  • NM_007318.3:c.1041_1043dup
  • NP_000012.1:p.Arg352dup
  • NP_015557.2:p.Arg348dup
  • LRG_224t1:c.1053_1055dup
  • LRG_224:g.80396_80398dup
  • LRG_224p1:p.Arg352dup
  • NC_000014.8:g.73678574_73678576dup
  • NM_000021.4:c.1053_1055dupTCGMANE SELECT
Links:
dbSNP: rs63750762
NCBI 1000 Genomes Browser:
rs63750762
Molecular consequence:
  • NM_000021.4:c.1053_1055dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_007318.3:c.1041_1043dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000116527VIB Department of Molecular Genetics, University of Antwerp
no classification provided
not providednot providednot provided

Description

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From VIB Department of Molecular Genetics, University of Antwerp, SCV000116527.1

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

Last Updated: Aug 18, 2024