NM_001197104.2(KMT2A):c.7337G>A (p.Ser2446Asn) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 17, 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:: RCV003193357.2

Allele description [Variation Report for NM_001197104.2(KMT2A):c.7337G>A (p.Ser2446Asn)]

NM_001197104.2(KMT2A):c.7337G>A (p.Ser2446Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_001197104.2(KMT2A):c.7337G>A (p.Ser2446Asn)

HGVS:

NC_000011.10:g.118503229G>A
NG_027813.1:g.71740G>A
NM_001197104.2:c.7337G>AMANE SELECT
NM_001412597.1:c.7427G>A
NM_005933.4:c.7328G>A
NP_001184033.1:p.Ser2446Asn
NP_001184033.1:p.Ser2446Asn
NP_001399526.1:p.Ser2476Asn
NP_005924.2:p.Ser2443Asn
LRG_613t1:c.7337G>A
LRG_613:g.71740G>A
LRG_613p1:p.Ser2446Asn
NC_000011.9:g.118373944G>A
NM_001197104.1:c.7337G>A

Protein change:

S2443N

Molecular consequence:

NM_001197104.2:c.7337G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412597.1:c.7427G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005933.4:c.7328G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Aegires albopunctatus voucher CASIZ182213 16S ribosomal RNA gene, partial sequence; mitochondrial
gi|1270541629|gb|MF958313.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003891823	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003891823

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 17, 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, SCV003891823.2

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

Description

The c.7337G>A (p.S2446N) alteration is located in exon 27 (coding exon 27) of the KMT2A gene. This alteration results from a G to A substitution at nucleotide position 7337, causing the serine (S) at amino acid position 2446 to be replaced by an asparagine (N). 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 1, 2024

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