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NM_001348716.2(KDM6B):c.4708G>T (p.Glu1570Ter) AND Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 9, 2022
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:
RCV003150530.1

Allele description [Variation Report for NM_001348716.2(KDM6B):c.4708G>T (p.Glu1570Ter)]

NM_001348716.2(KDM6B):c.4708G>T (p.Glu1570Ter)

Gene:
KDM6B:lysine demethylase 6B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_001348716.2(KDM6B):c.4708G>T (p.Glu1570Ter)
HGVS:
  • NC_000017.11:g.7853097G>T
  • NG_053032.1:g.23898G>T
  • NM_001080424.2:c.4708G>T
  • NM_001348716.2:c.4708G>TMANE SELECT
  • NP_001073893.1:p.Glu1570Ter
  • NP_001335645.1:p.Glu1570Ter
  • NC_000017.10:g.7756415G>T
Protein change:
E1570*
Molecular consequence:
  • NM_001080424.2:c.4708G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348716.2:c.4708G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
Synonyms:
STOLERMAN NEURODEVELOPMENTAL SYNDROME
Identifiers:
MONDO: MONDO:0032790; MedGen: C5193134; OMIM: 618505

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002570456Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
no assertion criteria provided
Likely pathogenic
(Sep 9, 2022) 		de novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+, SCV002570456.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024