NM_001197104.2(KMT2A):c.7226_7237delinsTTATG (p.Gly2409fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 25, 2018
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:: RCV001008926.1

Allele description [Variation Report for NM_001197104.2(KMT2A):c.7226_7237delinsTTATG (p.Gly2409fs)]

NM_001197104.2(KMT2A):c.7226_7237delinsTTATG (p.Gly2409fs)

Gene:

KMT2A:lysine methyltransferase 2A [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_001197104.2(KMT2A):c.7226_7237delinsTTATG (p.Gly2409fs)

HGVS:

NC_000011.10:g.118503118_118503129delinsTTATG
NG_027813.1:g.71629_71640delinsTTATG
NM_001197104.2:c.7226_7237delinsTTATGMANE SELECT
NM_005933.4:c.7217_7228delinsTTATG
NP_001184033.1:p.Gly2409fs
NP_005924.2:p.Gly2406fs
LRG_613t1:c.7226_7237delGAATGAGCAACAinsTTATG
LRG_613:g.71629_71640delinsTTATG
NC_000011.9:g.118373833_118373844delinsTTATG
NM_001197104.1:c.7226_7237delGAATGAGCAACAinsTTATG

Protein change:

G2406fs

Links:

dbSNP: rs1591281522

NCBI 1000 Genomes Browser:

rs1591281522

Molecular consequence:

NM_001197104.2:c.7226_7237delinsTTATG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005933.4:c.7217_7228delinsTTATG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

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
SCV001168733	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jun 25, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001168733

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jun 25, 2018)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001168733.1

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

Description

The c.7226_7237del12insTTATG variant in the KMT2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.7226_7237del12insTTATG variant causes a frameshift starting with codon Glycine 2409, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 45 of the new reading frame, denoted p.Gly2409ValfsX45. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.7226_7237del12insTTATG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.7226_7237del12insTTATG as a pathogenic variant.

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

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine