NM_170606.3(KMT2C):c.6570_6573del (p.Phe2190fs) AND Kleefstra syndrome 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 12, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002293286.1

Allele description [Variation Report for NM_170606.3(KMT2C):c.6570_6573del (p.Phe2190fs)]

NM_170606.3(KMT2C):c.6570_6573del (p.Phe2190fs)

Gene:

KMT2C:lysine methyltransferase 2C [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_170606.3(KMT2C):c.6570_6573del (p.Phe2190fs)

HGVS:

NC_000007.14:g.152181288ACAA[1]
NG_033948.1:g.259712TGTT[1]
NM_170606.3:c.6570_6573delMANE SELECT
NP_733751.2:p.Phe2190fs
NC_000007.13:g.151878373ACAA[1]

Protein change:

F2190fs

Links:

dbSNP: rs2487796038

NCBI 1000 Genomes Browser:

rs2487796038

Molecular consequence:

NM_170606.3:c.6570_6573del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Kleefstra syndrome 2 (KLEFS2)
Identifiers:: MONDO: MONDO:0054701; MedGen: C4540395; OMIM: 617768

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002585003	Prenatal Diagnosis Center, Inner Mongolia Medical University	no assertion criteria provided	Pathogenic (Aug 12, 2022)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002585003

Prenatal Diagnosis Center, Inner Mongolia Medical University

no assertion criteria provided

Pathogenic
(Aug 12, 2022)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	1	not provided	not provided	not provided	clinical testing

Details of each submission

From Prenatal Diagnosis Center, Inner Mongolia Medical University, SCV002585003.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	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	de novo	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: May 16, 2025

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