The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Likely pathogenic
- Review status:
- criteria provided, single submitter
- Submissions:
- 1
- First in ClinVar:
- Jun 3, 2022
- Most recent Submission:
- Jun 3, 2022
- Last evaluated:
- May 22, 2022
- Accession:
- VCV001687601.1
- Variation ID:
- 1687601
- Description:
- single nucleotide variant
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NM_015443.4(KANSL1):c.1347G>A (p.Trp449Ter)
- Allele ID
- 1679893
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 17q21.31
- Genomic location
- 17: 46094644 (GRCh38) GRCh38 UCSC
- 17: 44172010 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_015443.4:c.1347G>A MANE Select NP_056258.1:p.Trp449Ter nonsense NM_001193465.2:c.1347G>A NP_001180394.1:p.Trp449Ter nonsense NM_001193466.2:c.1347G>A NP_001180395.1:p.Trp449Ter nonsense NM_001379198.1:c.1347G>A NP_001366127.1:p.Trp449Ter nonsense NC_000017.11:g.46094644C>T NC_000017.10:g.44172010C>T NG_032784.1:g.135731G>A - Protein change
- W449*
- Other names
- -
- Canonical SPDI
- NC_000017.11:46094643:C:T
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Likely pathogenic | 1 | criteria provided, single submitter | May 22, 2022 | RCV002251283.1 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Likely pathogenic
(May 22, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Koolen-de Vries syndrome
Affected status: yes
Allele origin:
germline
|
3billion
Accession: SCV002521870.1
First in ClinVar: Jun 03, 2022 Last updated: Jun 03, 2022 |
Comment:
The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through … (more)
The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Intellectual disability (present) , Abnormal facial shape (present)
Zygosity: 1 Single Heterozygote
|
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. |
Record last updated Jun 05, 2022