NM_015443.4(KANSL1):c.715C>T (p.Gln239Ter) AND Koolen-de Vries syndrome

Clinical significance:Uncertain significance (Last evaluated: Aug 16, 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:: RCV002006085.3

Allele description [Variation Report for NM_015443.4(KANSL1):c.715C>T (p.Gln239Ter)]

NM_015443.4(KANSL1):c.715C>T (p.Gln239Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_015443.4(KANSL1):c.715C>T (p.Gln239Ter)

HGVS:

NC_000017.11:g.46171429G>A
NG_032784.1:g.58946C>T
NM_001193465.2:c.715C>T
NM_001193466.2:c.715C>T
NM_001379198.1:c.715C>T
NM_015443.4:c.715C>TMANE SELECT
NP_001180394.1:p.Gln239Ter
NP_001180395.1:p.Gln239Ter
NP_001366127.1:p.Gln239Ter
NP_056258.1:p.Gln239Ter
NC_000017.10:g.44248795G>A

Protein change:

Q239*

Molecular consequence:

NM_001193465.2:c.715C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001193466.2:c.715C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001379198.1:c.715C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_015443.4:c.715C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002272288	Invitae	criteria provided, single submitter Invitae Variant Classification Sherloc (09022015)	Uncertain significance (Aug 16, 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

SCV002272288

Invitae

criteria provided, single submitter

Invitae Variant Classification Sherloc (09022015)

Uncertain significance
(Aug 16, 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, SCV002272288.1

#	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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