U.S. flag

An official website of the United States government

NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter) AND Abnormal cerebral morphology

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002275195.1

Allele description [Variation Report for NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter)]

NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter)

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.1549C>T (p.Gln517Ter)
HGVS:
  • NC_000019.10:g.49861265G>A
  • NG_027717.1:g.11301C>T
  • NG_050666.1:g.17422G>A
  • NM_007254.4:c.1549C>TMANE SELECT
  • NP_009185.2:p.Gln517Ter
  • NC_000019.9:g.50364522G>A
  • NM_007254.2:c.1549C>T
  • NM_007254.3:c.1549C>T
Protein change:
Q517*; GLN517TER
Links:
OMIM: 605610.0009; dbSNP: rs774995635
NCBI 1000 Genomes Browser:
rs774995635
Molecular consequence:
  • NM_007254.4:c.1549C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Abnormal cerebral morphology
Synonyms:
Abnormality of the cerebrum
Identifiers:
MedGen: C4021762; Human Phenotype Ontology: HP:0002060

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002562837Diagnostic Laboratory, Strasbourg University Hospital
no assertion criteria provided
Pathogenicpaternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot provided1not providedclinical testing

Details of each submission

From Diagnostic Laboratory, Strasbourg University Hospital, SCV002562837.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyes1not providednot provided1not providednot providednot provided

Last Updated: May 1, 2024