This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 754 of the KANSL1 protein (p.Val754Met). This variant is present in population databases (rs773184800, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with KANSL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1036055). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
ClinVar Genomic variation as it relates to human health
Help
- Interpretation:
-
Uncertain significance
- Review status:
- criteria provided, single submitter
- Submissions:
- 1
- First in ClinVar:
- Mar 22, 2021
- Most recent Submission:
- Feb 7, 2023
- Last evaluated:
- Aug 22, 2022
- Accession:
- VCV001036055.5
- Variation ID:
- 1036055
- Description:
- single nucleotide variant
Help
NM_015443.4(KANSL1):c.2260G>A (p.Val754Met)
- Allele ID
- 1033356
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 17q21.31
- Genomic location
- 17: 46039159 (GRCh38) GRCh38 UCSC
- 17: 44116525 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_015443.4:c.2260G>A MANE Select NP_056258.1:p.Val754Met missense NM_001193465.2:c.2260G>A NP_001180394.1:p.Val754Met missense NM_001193466.2:c.2260G>A NP_001180395.1:p.Val754Met missense NM_001379198.1:c.2260G>A NP_001366127.1:p.Val754Met missense NC_000017.11:g.46039159C>T NC_000017.10:g.44116525C>T NG_032784.1:g.191216G>A - Protein change
- V754M
- Other names
- -
- Canonical SPDI
- NC_000017.11:46039158:C:T
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- Trans-Omics for Precision Medicine (TOPMed) 0.0E0
- The Genome Aggregation Database (gnomAD) 0.00001
- The Genome Aggregation Database (gnomAD), exomes 0.00001
- Exome Aggregation Consortium (ExAC) 0.00002
- Trans-Omics for Precision Medicine (TOPMed) 0.00003
- Links
- dbSNP: rs773184800
- VarSome
Help
Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Uncertain significance | 1 | criteria provided, single submitter | Aug 22, 2022 | RCV001339007.5 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Uncertain significance
(Aug 22, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Koolen-de Vries syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001532720.3
First in ClinVar: Mar 22, 2021 Last updated: Feb 07, 2023 |
Comment:
This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 754 of the KANSL1 protein (p.Val754Met). … (more)
This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 754 of the KANSL1 protein (p.Val754Met). This variant is present in population databases (rs773184800, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with KANSL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1036055). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
|
Functional evidence
Help| 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
Help| 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 rs773184800...
HelpThese 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 Feb 07, 2023