NM_001193466.2(KANSL1):c.878del (p.Asp293fs) AND Koolen-de Vries syndrome

Clinical significance:Pathogenic (Last evaluated: Dec 8, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000656400.1

Allele description [Variation Report for NM_001193466.2(KANSL1):c.878del (p.Asp293fs)]

NM_001193466.2(KANSL1):c.878del (p.Asp293fs)

Gene:
KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_001193466.2(KANSL1):c.878del (p.Asp293fs)
HGVS:
  • NC_000017.11:g.46171266del
  • NG_032784.1:g.59109del
  • NM_001193465.1:c.878del
  • NM_001193466.2:c.878del
  • NM_015443.3:c.878del
  • NP_001180394.1:p.Asp293fs
  • NP_001180395.1:p.Asp293fs
  • NP_056258.1:p.Asp293fs
  • NC_000017.10:g.44248632del
  • NM_015443.3:c.878delA
Protein change:
D293fs
Links:
dbSNP: rs1555575405
NCBI 1000 Genomes Browser:
rs1555575405
Molecular consequence:
  • NM_001193465.1:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001193466.2:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015443.3:c.878del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

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
SCV000778407Equipe Genetique des Anomalies du Developpement, Université de Bourgognecriteria provided, single submitter
Pathogenic
(Dec 8, 2016)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes2not providednot providednot providedyesclinical 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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV000778407.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providedyesclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Apr 12, 2021

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