ClinVar Genomic variation as it relates to human health
Help
- Interpretation:
-
Pathogenic
- Review status:
- criteria provided, single submitter
- Submissions:
- 1
- First in ClinVar:
- Jul 16, 2020
- Most recent Submission:
- May 16, 2022
- Last evaluated:
- Aug 28, 2021
- Accession:
- VCV000944681.5
- Variation ID:
- 944681
- Description:
- single nucleotide variant
Help
NM_015443.4(KANSL1):c.2837+2T>C
- Allele ID
- 941183
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 17q21.31
- Genomic location
- 17: 46033078 (GRCh38) GRCh38 UCSC
- 17: 44110444 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_015443.4:c.2837+2T>C MANE Select splice donor NM_001193465.2:c.2834+2T>C splice donor NM_001193466.2:c.2837+2T>C splice donor NM_001379198.1:c.2837+2T>C splice donor NC_000017.11:g.46033078A>G NC_000017.10:g.44110444A>G NG_032784.1:g.197297T>C - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000017.11:46033077:A:G
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- dbSNP: rs975947508
- VarSome
Help
Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | criteria provided, single submitter | Aug 28, 2021 | RCV001215137.5 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Aug 28, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Koolen-de Vries syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001386865.3
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 rs975947508...
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