NM_014727.3(KMT2B):c.6056G>C (p.Gly2019Ala) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 6, 2021
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:: RCV002649541.2

Allele description [Variation Report for NM_014727.3(KMT2B):c.6056G>C (p.Gly2019Ala)]

NM_014727.3(KMT2B):c.6056G>C (p.Gly2019Ala)

Gene:

KMT2B:lysine methyltransferase 2B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.12

Genomic location:

Preferred name:

NM_014727.3(KMT2B):c.6056G>C (p.Gly2019Ala)

HGVS:

NC_000019.10:g.35732605G>C
NG_052906.1:g.19587G>C
NM_014727.3:c.6056G>CMANE SELECT
NP_055542.1:p.Gly2019Ala
NC_000019.9:g.36223506G>C
NM_014727.1:c.6056G>C

Protein change:

G2019A

Molecular consequence:

NM_014727.3:c.6056G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

DNA packaging tegument protein UL25 [Human gammaherpesvirus 4]
DNA packaging tegument protein UL25 [Human gammaherpesvirus 4]
gi|82503259|ref|YP_401703.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003749427	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 6, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003749427

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 6, 2021)

germline

clinical testing

Citation Link

Help

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, SCV003749427.2

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

Description

The c.6056G>C (p.G2019A) alteration is located in exon 28 (coding exon 28) of the KMT2B gene. This alteration results from a G to C substitution at nucleotide position 6056, causing the glycine (G) at amino acid position 2019 to be replaced by an alanine (A). 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: Oct 20, 2024

ClinVar

Relating variation to medicine