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NM_007254.4(PNKP):c.610C>T (p.Arg204Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 12, 2014
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:
RCV000188430.1

Allele description [Variation Report for NM_007254.4(PNKP):c.610C>T (p.Arg204Ter)]

NM_007254.4(PNKP):c.610C>T (p.Arg204Ter)

Gene:
PNKP:polynucleotide kinase 3'-phosphatase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_007254.4(PNKP):c.610C>T (p.Arg204Ter)
Other names:
p.R204*:CGA>TGA
HGVS:
  • NC_000019.10:g.49864205G>A
  • NG_027717.1:g.8361C>T
  • NM_007254.4:c.610C>TMANE SELECT
  • NP_009185.2:p.Arg204Ter
  • NC_000019.9:g.50367462G>A
  • NM_007254.2:c.610C>T
  • NM_007254.3:c.610C>T
Protein change:
R204*
Links:
dbSNP: rs796052850
NCBI 1000 Genomes Browser:
rs796052850
Molecular consequence:
  • NM_007254.4:c.610C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000242043GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Feb 12, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000242043.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Arg204Stop (CGA>TGA): c.610 C>T in exon 6 of the PNKP gene (NM_007254.2) The Arg204Stop nonsense mutation in the PNKP gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been reported previously to our knowledge, it is considered a disease-causing mutation.The variant is found in EPILEPSY panel(s).

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

Last Updated: Apr 23, 2022