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NM_015443.4(KANSL1):c.541C>T (p.Arg181Trp)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2
First in ClinVar:
May 29, 2016
Most recent Submission:
May 16, 2022
Last evaluated:
Aug 4, 2021
Accession:
VCV000205769.7
Variation ID:
205769
Description:
single nucleotide variant
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NM_015443.4(KANSL1):c.541C>T (p.Arg181Trp)

Allele ID
203439
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46171603 (GRCh38) GRCh38 UCSC
17: 44248969 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.541C>T MANE Select NP_056258.1:p.Arg181Trp missense
NM_001193465.2:c.541C>T NP_001180394.1:p.Arg181Trp missense
NM_001193466.2:c.541C>T NP_001180395.1:p.Arg181Trp missense
... more HGVS
Protein change
R181W
Other names
p.R181W:CGG>TGG
Canonical SPDI
NC_000017.11:46171602:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
The Genome Aggregation Database (gnomAD) 0.00006
Exome Aggregation Consortium (ExAC) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00008
The Genome Aggregation Database (gnomAD) 0.00004
Links
ClinGen: CA315164
dbSNP: rs375225315
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Aug 4, 2021 RCV000644675.6
Likely benign 1 criteria provided, single submitter Oct 23, 2020 RCV001705003.1
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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
1071 1218

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely benign
(Oct 23, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000241354.11
First in ClinVar: Aug 07, 2015
Last updated: May 29, 2016
Comment:
This variant is associated with the following publications: (PMID: 29352316)
Likely benign
(Aug 04, 2021)
criteria provided, single submitter
Method: clinical testing
Koolen-de Vries syndrome
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000766378.4
First in ClinVar: May 28, 2018
Last updated: May 16, 2022

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 rs375225315...

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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 Aug 24, 2022