This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Benign/Likely benign
- Review status:
- criteria provided, multiple submitters, no conflicts
- Submissions:
- 3
- First in ClinVar:
- Jun 23, 2014
- Most recent Submission:
- Jan 21, 2023
- Last evaluated:
- Dec 8, 2021
- Accession:
- VCV000137968.13
- Variation ID:
- 137968
- Description:
- single nucleotide variant
Help
NM_015443.4(KANSL1):c.2481C>T (p.Ser827=)
- Allele ID
- 141671
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 17q21.31
- Genomic location
- 17: 46038598 (GRCh38) GRCh38 UCSC
- 17: 44115964 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_015443.4:c.2481C>T MANE Select NP_056258.1:p.Ser827= synonymous NM_001193465.2:c.2481C>T NP_001180394.1:p.Ser827= synonymous NM_001193466.2:c.2481C>T NP_001180395.1:p.Ser827= synonymous NM_001379198.1:c.2481C>T NP_001366127.1:p.Ser827= synonymous NC_000017.11:g.46038598G>A NC_000017.10:g.44115964G>A NG_032784.1:g.191777C>T - Protein change
- -
- Other names
- p.S827S:TCC>TCT
- Canonical SPDI
- NC_000017.11:46038597:G:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- 0.00060 (A)
- Allele frequency
- NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
- 1000 Genomes Project 0.00060
- The Genome Aggregation Database (gnomAD) 0.00048
- Exome Aggregation Consortium (ExAC) 0.00064
- The Genome Aggregation Database (gnomAD), exomes 0.00043
- The Genome Aggregation Database (gnomAD) 0.00044
- Trans-Omics for Precision Medicine (TOPMed) 0.00044
- Trans-Omics for Precision Medicine (TOPMed) 0.00037
- Links
- ClinGen: CA291703
- dbSNP: rs143653891
- VarSome
Help
Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Benign | 1 | criteria provided, single submitter | Feb 20, 2014 | RCV000126397.1 | |
| Benign | 1 | criteria provided, single submitter | Dec 8, 2021 | RCV000527745.8 | |
| Likely benign | 1 | criteria provided, single submitter | Sep 1, 2021 | RCV001725990.7 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Benign
(Feb 20, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000169901.10
First in ClinVar: Jun 23, 2014 Last updated: Jun 23, 2014 |
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
|
|
|
Benign
(Dec 08, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Koolen-de Vries syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000645048.6
First in ClinVar: Dec 26, 2017 Last updated: May 16, 2022 |
|
|
|
Likely benign
(Sep 01, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001961705.7
First in ClinVar: Oct 08, 2021 Last updated: Jan 21, 2023 |
Number of individuals with the variant: 1
|
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 rs143653891...
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 Jan 21, 2023