NM_001197104.2(KMT2A):c.7497del (p.Val2500fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 19, 2017
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:: RCV000624286.2

Allele description [Variation Report for NM_001197104.2(KMT2A):c.7497del (p.Val2500fs)]

NM_001197104.2(KMT2A):c.7497del (p.Val2500fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_001197104.2(KMT2A):c.7497del (p.Val2500fs)

HGVS:

NC_000011.10:g.118503389del
NG_027813.1:g.71900del
NM_001197104.2:c.7497delMANE SELECT
NM_005933.4:c.7488del
NP_001184033.1:p.Val2500fs
NP_005924.2:p.Val2497fs
LRG_613:g.71900del
NC_000011.9:g.118374104del
NM_001197104.1:c.7497delA

Protein change:

V2497fs

Links:

dbSNP: rs1555046615

NCBI 1000 Genomes Browser:

rs1555046615

Molecular consequence:

NM_001197104.2:c.7497del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005933.4:c.7488del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000742721	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Jul 19, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000742721

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Jul 19, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
African American	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000742721.3

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

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

Last Updated: Jan 7, 2023

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