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NM_032590.5(KDM2B):c.3574C>T (p.Arg1192Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 3, 2024
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:
RCV004409021.1

Allele description [Variation Report for NM_032590.5(KDM2B):c.3574C>T (p.Arg1192Trp)]

NM_032590.5(KDM2B):c.3574C>T (p.Arg1192Trp)

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.3574C>T (p.Arg1192Trp)
HGVS:
  • NC_000012.12:g.121440852G>A
  • NG_033820.1:g.145164C>T
  • NG_033820.2:g.146427C>T
  • NM_001005366.2:c.3367C>T
  • NM_032590.5:c.3574C>TMANE SELECT
  • NP_001005366.1:p.Arg1123Trp
  • NP_115979.3:p.Arg1192Trp
  • NC_000012.11:g.121878655G>A
  • NM_032590.4:c.3574C>T
Protein change:
R1123W
Molecular consequence:
  • NM_001005366.2:c.3367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032590.5:c.3574C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004891549Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 3, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004891549.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.3574C>T (p.R1192W) alteration is located in exon 21 (coding exon 21) of the KDM2B gene. This alteration results from a C to T substitution at nucleotide position 3574, causing the arginine (R) at amino acid position 1192 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024