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NM_000021.4(PSEN1):c.617G>T (p.Gly206Val) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 1, 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:
RCV000084338.23

Allele description [Variation Report for NM_000021.4(PSEN1):c.617G>T (p.Gly206Val)]

NM_000021.4(PSEN1):c.617G>T (p.Gly206Val)

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.617G>T (p.Gly206Val)
HGVS:
  • NC_000014.9:g.73192712G>T
  • NG_007386.2:g.61242G>T
  • NM_000021.4:c.617G>TMANE SELECT
  • NM_007318.3:c.605G>T
  • NP_000012.1:p.Gly206Val
  • NP_015557.2:p.Gly202Val
  • LRG_224t1:c.617G>T
  • LRG_224:g.61242G>T
  • LRG_224p1:p.Gly206Val
  • NC_000014.8:g.73659420G>T
Protein change:
G202V
Links:
dbSNP: rs63750082
NCBI 1000 Genomes Browser:
rs63750082
Molecular consequence:
  • NM_000021.4:c.617G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007318.3:c.605G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000116474VIB Department of Molecular Genetics, University of Antwerp
no classification provided
not providednot providednot provided

SCV001248747CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Oct 1, 2017) 		germlineclinical testing

Citation Link

Description

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From VIB Department of Molecular Genetics, University of Antwerp, SCV000116474.1

#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 CeGaT Center for Human Genetics Tuebingen, SCV001248747.26

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

Last Updated: Oct 20, 2024