NM_015443.4(KANSL1):c.3049dup (p.Asp1017fs) AND Koolen-de Vries syndrome

Clinical significance:Pathogenic (Last evaluated: Jun 16, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001260492.1

Allele description [Variation Report for NM_015443.4(KANSL1):c.3049dup (p.Asp1017fs)]

NM_015443.4(KANSL1):c.3049dup (p.Asp1017fs)

Gene:
KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_015443.4(KANSL1):c.3049dup (p.Asp1017fs)
HGVS:
  • NC_000017.11:g.46032089dup
  • NG_032784.1:g.198287dup
  • NM_001193465.2:c.3046dup
  • NM_001193466.2:c.3049dup
  • NM_001379198.1:c.3049dup
  • NM_015443.4:c.3049dupMANE SELECT
  • NP_001180394.1:p.Asp1016fs
  • NP_001180395.1:p.Asp1017fs
  • NP_001366127.1:p.Asp1017fs
  • NP_056258.1:p.Asp1017fs
  • NC_000017.10:g.44109455dup
  • NM_001193465.1:c.3046dupG
Protein change:
D1016fs
Molecular consequence:
  • NM_001193465.2:c.3046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001193466.2:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001379198.1:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015443.4:c.3049dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Koolen-de Vries syndrome (KDVS)
Synonyms:
17q21.31 microdeletion syndrome; 17q21.31 deletion syndrome; Monosomy 17q21.31; See all synonyms [MedGen]
Identifiers:
MedGen: C1864871; Orphanet: 96169; OMIM: 610443

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001437511Clinical Genetics laboratory, University of Goettingencriteria provided, single submitter
Pathogenic
(Jun 16, 2020)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical 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 Clinical Genetics laboratory, University of Goettingen, SCV001437511.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

The KANSL1 variant c.3046dupG is not found in the gnomAD database. The mutation has been occurred de novo. The variant c.3046dupG in KANSL1 causes a frameshift and possibly also haploinsufficency. Thus, we consider this variant to be pathogenic. ACMG criteria used for classification: PVS1_vstr, PM2.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 12, 2021

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