NM_000447.2(PSEN2):c.1001C>G (p.Pro334Arg) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 24, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000084267.2

Allele description [Variation Report for NM_000447.2(PSEN2):c.1001C>G (p.Pro334Arg)]

NM_000447.2(PSEN2):c.1001C>G (p.Pro334Arg)

Gene:
PSEN2:presenilin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.13
Genomic location:
Preferred name:
NM_000447.2(PSEN2):c.1001C>G (p.Pro334Arg)
HGVS:
  • NC_000001.11:g.226891773C>G
  • NG_007381.1:g.26202C>G
  • NM_000447.2:c.1001C>G
  • NP_000438.2:p.Pro334Arg
  • NC_000001.10:g.227079474C>G
Protein change:
P334R
Links:
dbSNP: 63750207
NCBI 1000 Genomes Browser:
rs63750207
Allele Frequency:
NaN
Molecular consequence:
  • NM_000447.2:c.1001C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000051045Biesecker Lab/Human Development Section,National Institutes of Health - ClinSeqcriteria provided, single submitter
Uncertain significance
(Jun 24, 2013)
unknownresearch

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

SCV000116403VIB Department of Molecular Genetics, University of Antwerpno assertion providednot providednot providednot provided

Description

The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for details.

SCV000051045

Medical sequencing

SCV000051045

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot providednot providednot providedresearch
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

Details of each submission

From Biesecker Lab/Human Development Section,National Institutes of Health - ClinSeq, SCV000051045.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided1not providednot providednot provided

From VIB Department of Molecular Genetics, University of Antwerp, SCV000116403.1

#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: Dec 6, 2016