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NM_015443.4(KANSL1):c.2677G>A (p.Val893Ile) AND Koolen-de Vries syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 4, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001235466.3

Allele description [Variation Report for NM_015443.4(KANSL1):c.2677G>A (p.Val893Ile)]

NM_015443.4(KANSL1):c.2677G>A (p.Val893Ile)

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.2677G>A (p.Val893Ile)
HGVS:
  • NC_000017.11:g.46033450C>T
  • NG_032784.1:g.196925G>A
  • NM_001193465.2:c.2674G>A
  • NM_001193466.2:c.2677G>A
  • NM_001379198.1:c.2677G>A
  • NM_015443.4:c.2677G>AMANE SELECT
  • NP_001180394.1:p.Val892Ile
  • NP_001180395.1:p.Val893Ile
  • NP_001366127.1:p.Val893Ile
  • NP_056258.1:p.Val893Ile
  • NC_000017.10:g.44110816C>T
  • NM_001193466.1:c.2677G>A
Protein change:
V892I
Links:
dbSNP: rs1057523139
NCBI 1000 Genomes Browser:
rs1057523139
Molecular consequence:
  • NM_001193465.2:c.2674G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193466.2:c.2677G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379198.1:c.2677G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015443.4:c.2677G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001408152Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Mar 4, 2022)
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, SCV001408152.3

#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: Feb 14, 2024