U.S. flag

An official website of the United States government

NM_001348716.2(KDM6B):c.1662CAACAG[1] (p.555NS[1]) AND Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 1, 2020
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:
RCV001264799.1

Allele description [Variation Report for NM_001348716.2(KDM6B):c.1662CAACAG[1] (p.555NS[1])]

NM_001348716.2(KDM6B):c.1662CAACAG[1] (p.555NS[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.1662CAACAG[1] (p.555NS[1])
HGVS:
  • NC_000017.11:g.7847950CAACAG[1]
  • NG_053032.1:g.18751CAACAG[1]
  • NM_001080424.2:c.1662CAACAG[1]
  • NM_001348716.2:c.1662CAACAG[1]MANE SELECT
  • NP_001073893.1:p.555NS[1]
  • NP_001335645.1:p.555NS[1]
  • NC_000017.10:g.7751268CAACAG[1]
  • NM_001080424.1:c.1668_1673del
  • NM_001080424.1:c.1668_1673del6
Links:
dbSNP: rs755048002
NCBI 1000 Genomes Browser:
rs755048002
Molecular consequence:
  • NM_001080424.2:c.1662CAACAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001348716.2:c.1662CAACAG[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

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
SCV001443041Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 1, 2020) 		biparentalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalyesnot 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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001443041.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PM2,PM3_Supporting,PM4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024