NM_015443.4(KANSL1):c.1653-3T>G AND Koolen-de Vries syndrome

Clinical significance:Uncertain significance (Last evaluated: Mar 12, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001375974.1

Allele description [Variation Report for NM_015443.4(KANSL1):c.1653-3T>G]

NM_015443.4(KANSL1):c.1653-3T>G

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.1653-3T>G
HGVS:
  • NC_000017.11:g.46066735A>C
  • NG_032784.1:g.163640T>G
  • NM_001193465.2:c.1653-3T>G
  • NM_001193466.2:c.1653-3T>G
  • NM_001379198.1:c.1653-3T>G
  • NM_015443.4:c.1653-3T>GMANE SELECT
  • NC_000017.10:g.44144101A>C
  • NM_001193466.1:c.1653-3T>G
Molecular consequence:
  • NM_001193465.2:c.1653-3T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001193466.2:c.1653-3T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001379198.1:c.1653-3T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015443.4:c.1653-3T>G - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001572969Genomic Medicine Lab, University of California San Francisco - CSER-P3EGScriteria provided, single submitter
Uncertain significance
(Mar 12, 2020)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot 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 Genomic Medicine Lab, University of California San Francisco - CSER-P3EGS, SCV001572969.1

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

Last Updated: May 5, 2021

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