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NM_032590.5(KDM2B):c.3050G>A (p.Arg1017His) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 10, 2016
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:
RCV000491693.1

Allele description [Variation Report for NM_032590.5(KDM2B):c.3050G>A (p.Arg1017His)]

NM_032590.5(KDM2B):c.3050G>A (p.Arg1017His)

Gene:
KDM2B:lysine demethylase 2B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_032590.5(KDM2B):c.3050G>A (p.Arg1017His)
HGVS:
  • NC_000012.12:g.121442391C>T
  • NG_033820.1:g.143625G>A
  • NM_001005366.2:c.2843G>A
  • NM_032590.5:c.3050G>AMANE SELECT
  • NP_001005366.1:p.Arg948His
  • NP_115979.3:p.Arg1017His
  • NC_000012.11:g.121880194C>T
  • NM_032590.4:c.3050G>A
Protein change:
R1017H
Links:
dbSNP: rs782304760
NCBI 1000 Genomes Browser:
rs782304760
Molecular consequence:
  • NM_001005366.2:c.2843G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032590.5:c.3050G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Microcephaly
Synonyms:
Microcephaly (disease)
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
Name:
Infantile spasms
Synonyms:
Infantile spasm
Identifiers:
MedGen: C3887898; Human Phenotype Ontology: HP:0012469
Name:
Hypotonia
Synonyms:
Muscular hypotonia; poor muscle tone
Identifiers:
MedGen: C0026827; Human Phenotype Ontology: HP:0001252

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000282216Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - The combination of WES, CNV-derived from WES, paralog studies, and GeneMatcher provide potential molecular diagnosis in a cohort from Saudi Arabia
no assertion criteria provided
Likely pathogenic
(Jan 10, 2016) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes2not providednot providednot providedyesresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - The combination of WES, CNV-derived from WES, paralog studies, and GeneMatcher provide potential molecular diagnosis in a cohort from Saudi Arabia, SCV000282216.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providedyesresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 8, 2024