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NM_015443.4(KANSL1):c.2837+2T>C AND Koolen-de Vries syndrome

Clinical significance:Pathogenic (Last evaluated: Aug 28, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001215137.5

Allele description [Variation Report for NM_015443.4(KANSL1):c.2837+2T>C]

NM_015443.4(KANSL1):c.2837+2T>C

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.2837+2T>C
HGVS:
  • NC_000017.11:g.46033078A>G
  • NG_032784.1:g.197297T>C
  • NM_001193465.2:c.2834+2T>C
  • NM_001193466.2:c.2837+2T>C
  • NM_001379198.1:c.2837+2T>C
  • NM_015443.4:c.2837+2T>CMANE SELECT
  • NC_000017.10:g.44110444A>G
  • NM_001193466.1:c.2837+2T>C
Links:
dbSNP: rs975947508
NCBI 1000 Genomes Browser:
rs975947508
Molecular consequence:
  • NM_001193465.2:c.2834+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001193466.2:c.2837+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001379198.1:c.2837+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_015443.4:c.2837+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001386865Invitaecriteria provided, single submitter
Pathogenic
(Aug 28, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV001386865.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 23, 2022

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