NM_032590.5(KDM2B):c.2566C>T (p.Leu856Phe) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 25, 2023
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:: RCV004409011.1

Allele description [Variation Report for NM_032590.5(KDM2B):c.2566C>T (p.Leu856Phe)]

NM_032590.5(KDM2B):c.2566C>T (p.Leu856Phe)

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.2566C>T (p.Leu856Phe)

HGVS:

NC_000012.12:g.121443030G>A
NG_033820.1:g.142986C>T
NG_033820.2:g.144249C>T
NM_001005366.2:c.2359C>T
NM_032590.5:c.2566C>TMANE SELECT
NP_001005366.1:p.Leu787Phe
NP_115979.3:p.Leu856Phe
NC_000012.11:g.121880833G>A
NM_032590.4:c.2566C>T

Protein change:

L787F

Molecular consequence:

NM_001005366.2:c.2359C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_032590.5:c.2566C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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zinc finger protein 789 isoform 6 [Homo sapiens]
zinc finger protein 789 isoform 6 [Homo sapiens]
gi|1187953378|ref|NP_001337933.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004891539	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 25, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004891539

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 25, 2023)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004891539.1

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

Description

The c.2566C>T (p.L856F) alteration is located in exon 18 (coding exon 18) of the KDM2B gene. This alteration results from a C to T substitution at nucleotide position 2566, causing the leucine (L) at amino acid position 856 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024

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