NM_007254.3(PNKP):c.1295_1298+6delCCAGGTAGCG AND Early infantile epileptic encephalopathy 10

Clinical significance:Pathogenic (Last evaluated: Jun 5, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000147346.1

Allele description [Variation Report for NM_007254.3(PNKP):c.1295_1298+6delCCAGGTAGCG]

NM_007254.3(PNKP):c.1295_1298+6delCCAGGTAGCG

Gene:
PNKP:polynucleotide kinase 3'-phosphatase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_007254.3(PNKP):c.1295_1298+6delCCAGGTAGCG
HGVS:
  • NC_000019.10:g.49861766_49861775delCGCTACCTGG
  • NG_027717.1:g.10791_10800delCCAGGTAGCG
  • NM_007254.3:c.1295_1298+6delCCAGGTAGCG
  • NC_000019.9:g.50365023_50365032delCGCTACCTGG
  • NM_007254.2:c.1295_1298+6delCCAGGTAGCG
  • NM_007254.3:c.1295_1298+6del
Links:
dbSNP: rs587784366
NCBI 1000 Genomes Browser:
rs587784366
Allele Frequency:
0.00013(-)
Molecular consequence:
  • NM_007254.3:c.1295_1298+6delCCAGGTAGCG - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000194721Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Pathogenic
(Jun 5, 2014)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000194721.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 21, 2018