NM_001348716.2(KDM6B):c.1639CCAACC[1] (p.547PT[1]) AND Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities

Germline classification:: Uncertain significance (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:: RCV003150552.1

Allele description [Variation Report for NM_001348716.2(KDM6B):c.1639CCAACC[1] (p.547PT[1])]

NM_001348716.2(KDM6B):c.1639CCAACC[1] (p.547PT[1])

Gene:

KDM6B:lysine demethylase 6B [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_001348716.2(KDM6B):c.1639CCAACC[1] (p.547PT[1])

HGVS:

NC_000017.11:g.7847927CCAACC[1]
NG_053032.1:g.18728CCAACC[1]
NM_001080424.2:c.1639CCAACC[1]
NM_001348716.2:c.1639CCAACC[1]MANE SELECT
NP_001073893.1:p.547PT[1]
NP_001335645.1:p.547PT[1]
NC_000017.10:g.7751245CCAACC[1]
NM_001080424.2:c.1645_1650del

Molecular consequence:

NM_001080424.2:c.1639CCAACC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001348716.2:c.1639CCAACC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002570484	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	no assertion criteria provided	Uncertain significance (Sep 9, 2022)	de novo	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002570484

Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

no assertion criteria provided

Uncertain significance
(Sep 9, 2022)

de novo

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+, SCV002570484.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

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

Last Updated: Feb 20, 2024

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