NM_015443.4(KANSL1):c.1289+3_1289+5del AND Koolen-de Vries syndrome

Clinical significance:Uncertain significance (Last evaluated: Aug 24, 2021)
Review status:1 star out of maximum of 4 stars
criteria provided, single submitter

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Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV000802373.4

Allele description [Variation Report for NM_015443.4(KANSL1):c.1289+3_1289+5del]

NM_015443.4(KANSL1):c.1289+3_1289+5del

Gene:

KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_015443.4(KANSL1):c.1289+3_1289+5del

HGVS:

NC_000017.11:g.46170850_46170852del
NG_032784.1:g.59523_59525del
NM_001193465.2:c.1289+3_1289+5del
NM_001193466.2:c.1289+3_1289+5del
NM_001379198.1:c.1289+3_1289+5del
NM_015443.4:c.1289+3_1289+5delMANE SELECT
NC_000017.10:g.44248216_44248218del
NM_001193466.1:c.1289+3_1289+5delGAG

Links:

dbSNP: rs1597870189

NCBI 1000 Genomes Browser:

rs1597870189

Molecular consequence:

NM_001193465.2:c.1289+3_1289+5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001193466.2:c.1289+3_1289+5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001379198.1:c.1289+3_1289+5del - intron variant - [Sequence Ontology: SO:0001627]
NM_015443.4:c.1289+3_1289+5del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Koolen-de Vries syndrome (KDVS)
Synonyms:: KANSL1-Related Intellectual Disability Syndrome
Identifiers:: MONDO: MONDO:0012496; MedGen: C1864871; Orphanet: 96169; OMIM: 610443

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000942200	Invitae	criteria provided, single submitter Invitae Variant Classification Sherloc (09022015)	Uncertain significance (Aug 24, 2021)	germline	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

SCV000942200

Invitae

criteria provided, single submitter

Invitae Variant Classification Sherloc (09022015)

Uncertain significance
(Aug 24, 2021)

germline

clinical testing

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

Summary from all submissions

Help

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000942200.2

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

#	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: Aug 23, 2022

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