NM_015443.4(KANSL1):c.1347G>A (p.Trp449Ter) AND Koolen-de Vries syndrome

Clinical significance:Likely pathogenic (Last evaluated: May 22, 2022)
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:: RCV002251283.1

Allele description [Variation Report for NM_015443.4(KANSL1):c.1347G>A (p.Trp449Ter)]

NM_015443.4(KANSL1):c.1347G>A (p.Trp449Ter)

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.1347G>A (p.Trp449Ter)

HGVS:

NC_000017.11:g.46094644C>T
NG_032784.1:g.135731G>A
NM_001193465.2:c.1347G>A
NM_001193466.2:c.1347G>A
NM_001379198.1:c.1347G>A
NM_015443.4:c.1347G>AMANE SELECT
NP_001180394.1:p.Trp449Ter
NP_001180395.1:p.Trp449Ter
NP_001366127.1:p.Trp449Ter
NP_056258.1:p.Trp449Ter
NC_000017.10:g.44172010C>T

Protein change:

W449*

Molecular consequence:

NM_001193465.2:c.1347G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001193466.2:c.1347G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001379198.1:c.1347G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_015443.4:c.1347G>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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
SCV002521870	3billion	criteria provided, single submitter ACMG Guidelines, 2015	Likely pathogenic (May 22, 2022)	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

SCV002521870

3billion

criteria provided, single submitter

ACMG Guidelines, 2015

Likely pathogenic
(May 22, 2022)

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	yes	1	not provided	not provided	1	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 3billion, SCV002521870.1

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

Description

The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

#	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: Jun 3, 2022

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