NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) AND Early infantile epileptic encephalopathy 10

Clinical significance:Benign/Likely benign (Last evaluated: May 31, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000625159.3

Allele description [Variation Report for NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)]

NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)

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.538C>A (p.Arg180Ser)
Other names:
p.R180S:CGC>AGC
HGVS:
  • NC_000019.10:g.49864364G>T
  • NG_027717.1:g.8202C>A
  • NM_007254.4:c.538C>AMANE SELECT
  • NP_009185.2:p.Arg180Ser
  • NC_000019.9:g.50367621G>T
  • NM_007254.2:c.538C>A
  • NM_007254.3:c.538C>A
  • Q96T60:p.Arg180Ser
Protein change:
R180S
Links:
UniProtKB: Q96T60#VAR_019262; dbSNP: rs3739185
NCBI 1000 Genomes Browser:
rs3739185
Molecular consequence:
  • NM_007254.4:c.538C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Early infantile epileptic encephalopathy 10 (MCSZ)
Synonyms:
Microcephaly, seizures and developmental delay; DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 10
Identifiers:
MONDO: MONDO:0013254; MedGen: C3150667; Orphanet: 1934; OMIM: 613402

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000743936Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensuscriteria provided, single submitter
Likely benign
(May 3, 2015)
germlineclinical testing

Citation Link,

SCV000745398Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensuscriteria provided, single submitter
Benign
(May 31, 2017)
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 Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV000743936.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000745398.1

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

Last Updated: Nov 27, 2021

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