NC_000009.12:g.137729445_137745564dup AND Kleefstra syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 13, 2020
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:: RCV001269480.2

Allele description [Variation Report for NC_000009.12:g.137729445_137745564dup]

NC_000009.12:g.137729445_137745564dup

Genes:: LOC130003141:ATAC-STARR-seq lymphoblastoid active region 29361 [Gene]
LOC130003142:ATAC-STARR-seq lymphoblastoid active region 29362 [Gene]
EHMT1:euchromatic histone lysine methyltransferase 1 [Gene - OMIM - HGNC]
Variant type:: Duplication
Cytogenetic location:: 9q34.3
Genomic location:: Chr9: 137729444 - 137745563 (on Assembly GRCh38)
Preferred name:: NC_000009.12:g.137729445_137745564dup
HGVS:: NC_000009.12:g.137729445_137745564dup
This HGVS expression did not pass validation
Observations:: 1

Condition(s)

Name:: Kleefstra syndrome 1
Identifiers:: MONDO: MONDO:0027407; MedGen: C0795833; Orphanet: 261494; OMIM: 610253

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001449494	Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 13, 2020)	paternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001449494

Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 13, 2020)

paternal

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasians,Ashkenazi Jew	paternal	yes	2	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV001449494.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasians,Ashkenazi Jew	2	not provided	not provided	clinical testing	PubMed (1)

Description

16,119bp tandem duplication involving exons 5 and 6. Results in frameshift and introduction of termination codon. Paternal mosaicism confirmed in unaffected father.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	blood	not provided		2	not provided	1	not provided

Last Updated: Oct 14, 2023

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