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. Frameshift: 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 pathogenic according to the recommendation of ACMG/AMP guideline.
ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
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:
- VCV001687166.1
- Variation ID:
- 1687166
- Description:
- 1bp duplication
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NM_016341.4(PLCE1):c.5363dup (p.Tyr1788Ter)
- Allele ID
- 1679459
- Variant type
- Duplication
- Variant length
- 1 bp
- Cytogenetic location
- 10q23.33
- Genomic location
- 10: 94298573-94298574 (GRCh38) GRCh38 UCSC
- 10: 96058330-96058331 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_016341.4:c.5363dup MANE Select NP_057425.3:p.Tyr1788Ter nonsense NM_001165979.2:c.4439dup NP_001159451.1:p.Tyr1480Ter nonsense NM_001288989.2:c.5315dup NP_001275918.1:p.Tyr1772Ter nonsense NC_000010.11:g.94298574dup NC_000010.10:g.96058331dup NG_015799.1:g.309586dup - Protein change
- Y1480*, Y1772*, Y1788*
- Other names
- -
- Canonical SPDI
- NC_000010.11:94298573:A:AA
- 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 |
|---|---|---|---|---|---|
| Pathogenic | 1 | criteria provided, single submitter | May 22, 2022 | RCV002250848.1 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(May 22, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Nephrotic syndrome, type 3
Affected status: yes
Allele origin:
germline
|
3billion
Accession: SCV002520977.1
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. Frameshift: 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 pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Steroid-resistant nephrotic syndrome (present) , Hematuria (present) , Focal segmental glomerulosclerosis (present)
Zygosity: 1 Homozygote
|
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