NM_006904.7(PRKDC):c.2667G>C (p.Glu889Asp) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 13, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000788197.1

Allele description [Variation Report for NM_006904.7(PRKDC):c.2667G>C (p.Glu889Asp)]

NM_006904.7(PRKDC):c.2667G>C (p.Glu889Asp)

Gene:
PRKDC:protein kinase, DNA-activated, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q11.21
Genomic location:
Preferred name:
NM_006904.7(PRKDC):c.2667G>C (p.Glu889Asp)
HGVS:
  • NC_000008.11:g.47914015C>G
  • NG_023435.1:g.51169G>C
  • NM_001081640.2:c.2667G>C
  • NM_006904.6:c.2667G>C
  • NM_006904.7:c.2667G>CMANE SELECT
  • NP_001075109.1:p.Glu889Asp
  • NP_008835.5:p.Glu889Asp
  • NP_008835.5:p.Glu889Asp
  • LRG_162t1:c.2667G>C
  • LRG_162:g.51169G>C
  • LRG_162p1:p.Glu889Asp
  • NC_000008.10:g.48826575C>G
  • NM_001081640.1:c.2667G>C
Protein change:
E889D
Links:
dbSNP: rs200126714
NCBI 1000 Genomes Browser:
rs200126714
Molecular consequence:
  • NM_001081640.2:c.2667G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006904.6:c.2667G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006904.7:c.2667G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000927231Blueprint Geneticscriteria provided, single submitter
Uncertain significance
(Apr 13, 2017)
germlineclinical testing

Citation Link

Description

Patient analyzed with Primary Immunodeficiency Panel

SCV000927231

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV000927231.1

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

Last Updated: Nov 27, 2021

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