Due to the possible presence of a polymorphic segmental duplication, the location of the variant could not be unambiguously resolved. Variants with ambiguous mapping are still reported relative to the KANSL1 transcript. This sequence change replaces glutamine with histidine at codon 318 of the KANSL1 protein (p.Gln318His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. The frequency data for this variant in the population databases (ExAC) is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. This variant has not been reported in the literature in individuals with KANSL1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Until the location of this sequence change can be resolved, the clinical significance of this variant remains uncertain. It has been classified as a Variant of Uncertain Significance.
ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Uncertain significance
- Review status:
- criteria provided, multiple submitters, no conflicts
- Submissions:
- 2
- First in ClinVar:
- Mar 28, 2022
- Most recent Submission:
- Dec 31, 2022
- Last evaluated:
- Oct 21, 2021
- Accession:
- VCV001476587.2
- Variation ID:
- 1476587
- Description:
- single nucleotide variant
Help
NM_015443.4(KANSL1):c.954A>T (p.Gln318His)
- Allele ID
- 1339360
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 17q21.31
- Genomic location
- 17: 46171190 (GRCh38) GRCh38 UCSC
- 17: 44248556 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_015443.4:c.954A>T MANE Select NP_056258.1:p.Gln318His missense NM_001193465.2:c.954A>T NP_001180394.1:p.Gln318His missense NM_001193466.2:c.954A>T NP_001180395.1:p.Gln318His missense NM_001379198.1:c.954A>T NP_001366127.1:p.Gln318His missense NC_000017.11:g.46171190T>A NC_000017.10:g.44248556T>A NG_032784.1:g.59185A>T - Protein change
- Q318H
- Other names
- -
- Canonical SPDI
- NC_000017.11:46171189:T:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- VarSome
Help
Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Uncertain significance | 2 | criteria provided, multiple submitters, no conflicts | Oct 21, 2021 | RCV001978019.2 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Uncertain significance
(Jul 01, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Koolen-de Vries syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV002262708.1
First in ClinVar: Mar 28, 2022 Last updated: Mar 28, 2022 |
Comment:
Due to the possible presence of a polymorphic segmental duplication, the location of the variant could not be unambiguously resolved. Variants with ambiguous mapping are … (more)
Due to the possible presence of a polymorphic segmental duplication, the location of the variant could not be unambiguously resolved. Variants with ambiguous mapping are still reported relative to the KANSL1 transcript. This sequence change replaces glutamine with histidine at codon 318 of the KANSL1 protein (p.Gln318His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. The frequency data for this variant in the population databases (ExAC) is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. This variant has not been reported in the literature in individuals with KANSL1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Until the location of this sequence change can be resolved, the clinical significance of this variant remains uncertain. It has been classified as a Variant of Uncertain Significance. (less)
|
|
|
Uncertain significance
(Oct 21, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Koolen-de Vries syndrome
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV002792764.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
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. |
Record last updated Jan 07, 2023