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:
- Apr 9, 2018
- Most recent Submission:
- Jun 3, 2022
- Last evaluated:
- Sep 17, 2021
- Accession:
- VCV000514645.2
- Variation ID:
- 514645
- Description:
- single nucleotide variant
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NM_015443.4(KANSL1):c.803C>T (p.Ser268Phe)
- Allele ID
- 506888
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 17q21.31
- Genomic location
- 17: 46171341 (GRCh38) GRCh38 UCSC
- 17: 44248707 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_015443.4:c.803C>T MANE Select NP_056258.1:p.Ser268Phe missense NM_001193465.2:c.803C>T NP_001180394.1:p.Ser268Phe missense NM_001193466.2:c.803C>T NP_001180395.1:p.Ser268Phe missense NM_001379198.1:c.803C>T NP_001366127.1:p.Ser268Phe missense NC_000017.11:g.46171341G>A NC_000017.10:g.44248707G>A NG_032784.1:g.59034C>T - Protein change
- S268F
- Other names
- -
- Canonical SPDI
- NC_000017.11:46171340:G:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- The Genome Aggregation Database (gnomAD) 0.00002
- The Genome Aggregation Database (gnomAD), exomes 0.00001
- Trans-Omics for Precision Medicine (TOPMed) 0.00002
- Links
- ClinGen: CA399980675
- dbSNP: rs1343422507
- 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 9, 2018 | RCV000607548.1 | |
| Uncertain significance | 1 | criteria provided, single submitter | Sep 17, 2021 | RCV001855236.1 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Likely benign
(Jan 09, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000726503.1
First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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: SCV002215375.1
First in ClinVar: Jun 03, 2022 Last updated: Jun 03, 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 rs1343422507...
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 Jun 03, 2022