ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Uncertain significance
- Review status:
- criteria provided, single submitter
- Submissions:
- 1
- First in ClinVar:
- Aug 14, 2019
- Most recent Submission:
- May 16, 2022
- Last evaluated:
- Aug 26, 2021
- Accession:
- VCV000642563.4
- Variation ID:
- 642563
- Description:
- single nucleotide variant
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NM_015443.4(KANSL1):c.584G>A (p.Gly195Glu)
- Allele ID
- 646127
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 17q21.31
- Genomic location
- 17: 46171560 (GRCh38) GRCh38 UCSC
- 17: 44248926 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_015443.4:c.584G>A MANE Select NP_056258.1:p.Gly195Glu missense NM_001193465.2:c.584G>A NP_001180394.1:p.Gly195Glu missense NM_001193466.2:c.584G>A NP_001180395.1:p.Gly195Glu missense NM_001379198.1:c.584G>A NP_001366127.1:p.Gly195Glu missense NC_000017.11:g.46171560C>T NC_000017.10:g.44248926C>T NG_032784.1:g.58815G>A - Protein change
- G195E
- Other names
- -
- Canonical SPDI
- NC_000017.11:46171559:C:T
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- dbSNP: rs757048501
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Uncertain significance | 1 | criteria provided, single submitter | Aug 26, 2021 | RCV000796049.4 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Uncertain significance
(Aug 26, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Koolen-de Vries syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000935540.2
First in ClinVar: Aug 14, 2019 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 rs757048501...
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