NM_015443.4(KANSL1):c.1857G>T (p.Arg619=) AND Koolen-de Vries syndrome

Clinical significance:Likely benign (Last evaluated: Nov 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000644693.4

Allele description [Variation Report for NM_015443.4(KANSL1):c.1857G>T (p.Arg619=)]

NM_015443.4(KANSL1):c.1857G>T (p.Arg619=)

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.1857G>T (p.Arg619=)
Other names:
p.R619R:CGG>CGT
HGVS:
  • NC_000017.11:g.46050696C>A
  • NG_032784.1:g.179679G>T
  • NM_001193465.2:c.1857G>T
  • NM_001193466.2:c.1857G>T
  • NM_001379198.1:c.1857G>T
  • NM_015443.4:c.1857G>TMANE SELECT
  • NP_001180394.1:p.Arg619=
  • NP_001180395.1:p.Arg619=
  • NP_001366127.1:p.Arg619=
  • NP_056258.1:p.Arg619=
  • NC_000017.10:g.44128062C>A
  • NC_000017.10:g.44128062C>A
  • NM_001193466.1:c.1857G>T
Links:
dbSNP: rs191986791
NCBI 1000 Genomes Browser:
rs191986791
Molecular consequence:
  • NM_001193465.2:c.1857G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001193466.2:c.1857G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001379198.1:c.1857G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_015443.4:c.1857G>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000766396Invitaecriteria provided, single submitter
Likely benign
(Nov 3, 2020)
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, SCV000766396.4

#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: Oct 25, 2021

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