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NM_015443.4(KANSL1):c.2224C>T (p.Arg742Trp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Sep 25, 2021)
Last evaluated:
Sep 1, 2020
Accession:
VCV000205796.4
Variation ID:
205796
Description:
single nucleotide variant
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NM_015443.4(KANSL1):c.2224C>T (p.Arg742Trp)

Allele ID
203394
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46039195 (GRCh38) GRCh38 UCSC
17: 44116561 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.44116561G>A
NC_000017.11:g.46039195G>A
NG_032784.1:g.191180C>T
... more HGVS
Protein change
R742W
Other names
p.R742W:CGG>TGG
Canonical SPDI
NC_000017.11:46039194:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA315219
dbSNP: rs150282556
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Nov 4, 2019 RCV001246712.2
Likely benign 1 criteria provided, single submitter Sep 1, 2020 RCV001705013.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KANSL1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh38
GRCh37
885 1044

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 01, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000241381.7
Submitted: (Sep 25, 2021)
Evidence details
Uncertain significance
(Nov 04, 2019)
criteria provided, single submitter
Method: clinical testing
Koolen-de Vries syndrome
Allele origin: germline
Invitae
Accession: SCV001420089.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with tryptophan at codon 742 of the KANSL1 protein (p.Arg742Trp). The arginine residue is moderately conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs150282556...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 05, 2021