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:
-
Conflicting interpretations of pathogenicity
Uncertain significance(1); Likely benign(1)
- Review status:
- criteria provided, conflicting interpretations
- Submissions:
- 2
- First in ClinVar:
- Mar 8, 2017
- Most recent Submission:
- May 16, 2022
- Last evaluated:
- Sep 17, 2021
- Accession:
- VCV000393029.6
- Variation ID:
- 393029
- Description:
- single nucleotide variant
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NM_015443.4(KANSL1):c.1021C>T (p.Arg341Trp)
- Allele ID
- 376229
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 17q21.31
- Genomic location
- 17: 46171123 (GRCh38) GRCh38 UCSC
- 17: 44248489 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_015443.4:c.1021C>T MANE Select NP_056258.1:p.Arg341Trp missense NM_001193465.2:c.1021C>T NP_001180394.1:p.Arg341Trp missense NM_001193466.2:c.1021C>T NP_001180395.1:p.Arg341Trp missense NM_001379198.1:c.1021C>T NP_001366127.1:p.Arg341Trp missense NC_000017.11:g.46171123G>A NC_000017.10:g.44248489G>A NG_032784.1:g.59252C>T - Protein change
- R341W
- Other names
- -
- Canonical SPDI
- NC_000017.11:46171122:G:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- The Genome Aggregation Database (gnomAD) 0.00003
- NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
- Trans-Omics for Precision Medicine (TOPMed) 0.00001
- The Genome Aggregation Database (gnomAD), exomes 0.00002
- Exome Aggregation Consortium (ExAC) 0.00003
- Links
- ClinGen: CA8618903
- dbSNP: rs373918467
- 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 | Jan 16, 2017 | RCV000438055.1 | |
| Uncertain significance | 1 | criteria provided, single submitter | Sep 17, 2021 | RCV001224346.5 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Likely benign
(Jan 16, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000536379.4
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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)
|
|
|
Uncertain significance
(Sep 17, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Koolen-de Vries syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001396536.3
First in ClinVar: Jul 16, 2020 Last updated: May 16, 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. |
Text-mined citations for rs373918467...
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 Aug 24, 2022