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
Help
- Interpretation:
-
Benign
- Review status:
- criteria provided, single submitter
- Submissions:
- 1
- First in ClinVar:
- Aug 26, 2019
- Most recent Submission:
- Aug 26, 2019
- Last evaluated:
- Jun 14, 2018
- Accession:
- VCV000682030.1
- Variation ID:
- 682030
- Description:
- single nucleotide variant
Help
NM_015443.4(KANSL1):c.2667-204G>T
- Allele ID
- 669318
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 17q21.31
- Genomic location
- 17: 46033664 (GRCh38) GRCh38 UCSC
- 17: 44111030 (GRCh37) GRCh37 UCSC
- HGVS
- ... more HGVS ... less HGVS
- Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000017.11:46033663:C:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- 0.03375 (A)
- Allele frequency
- Trans-Omics for Precision Medicine (TOPMed) 0.03392
- The Genome Aggregation Database (gnomAD) 0.03265
- 1000 Genomes Project 0.03375
- Trans-Omics for Precision Medicine (TOPMed) 0.03489
- The Genome Aggregation Database (gnomAD) 0.02845
- Links
- dbSNP: rs73317042
- 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 | Jun 14, 2018 | RCV000842021.1 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Benign
(Jun 14, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000984014.1
First in ClinVar: Aug 26, 2019 Last updated: Aug 26, 2019 |
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)
|
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 rs73317042...
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 Apr 25, 2022