NM_007254.4(PNKP):c.1295_1298+6del AND Early infantile epileptic encephalopathy 10

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 5, 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:: RCV000147346.1

Allele description

NM_007254.4(PNKP):c.1295_1298+6del

Gene:

PNKP:polynucleotide kinase 3'-phosphatase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19q13.33

Genomic location:

Preferred name:

NM_007254.4(PNKP):c.1295_1298+6del

HGVS:

NC_000019.10:g.49861769_49861778del
NC_000019.9:g.50365023_50365032del
NG_027717.1:g.10791_10800del
NG_050666.1:g.17926_17935del
NM_007254.4:c.1295_1298+6delMANE SELECT
NC_000019.9:g.50365023_50365032del
NC_000019.9:g.50365023_50365032delCGCTACCTGG
NC_000019.9:g.50365026_50365035del
NM_007254.2:c.1295_1298+6delCCAGGTAGCG
NM_007254.3:c.1295_1298+6delCCAGGTAGCG
p.?
NM_007254.2:c.1295_1298+6delCCAGGTAGCG

Links:

dbSNP: rs587784366

NCBI 1000 Genomes Browser:

rs587784366

Molecular consequence:

NM_007254.4:c.1295_1298+6del - splice donor variant - [Sequence Ontology: SO:0001575]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000194721	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 5, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000194721

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 5, 2014)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 7, 2021

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