The PIK3CD c.1579G>A (p.Glu527Lys) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Glu527Lys variant is reported at a frequency of 0.000009 in the European (non-Finnish) population of the Genome Aggregation Database (version 2.1.1), though this is based on one allele in a region of good sequence coverage so the variant is presumed to be rare. Multiple lines of computational evidence suggest that this variant may have a deleterious impact, though these predictions have not been confirmed experimentally. Based on the identification of the variant in a de novo state, and the available evidence, the p.Glu527Lys variant is classified as a variant of uncertain significance for activated PI3K-delta syndrome.
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:
- Dec 18, 2021
- Most recent Submission:
- Dec 18, 2021
- Last evaluated:
- Aug 31, 2021
- Accession:
- VCV001328117.4
- Variation ID:
- 1328117
- Description:
- single nucleotide variant
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NM_005026.5(PIK3CD):c.1579G>A (p.Glu527Lys)
- Allele ID
- 1318736
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 1p36.22
- Genomic location
- 1: 9720799 (GRCh38) GRCh38 UCSC
- 1: 9780857 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_005026.5:c.1579G>A MANE Select NP_005017.3:p.Glu527Lys missense NM_001350234.2:c.1576G>A NP_001337163.1:p.Glu526Lys missense NM_001350235.1:c.1492G>A NP_001337164.1:p.Glu498Lys missense NC_000001.11:g.9720799G>A NC_000001.10:g.9780857G>A NG_023434.1:g.74068G>A LRG_191:g.74068G>A - Protein change
- E498K, E526K, E527K
- Other names
- -
- Canonical SPDI
- NC_000001.11:9720798:G:A
- 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 |
|---|---|---|---|---|---|
| Uncertain significance | 1 | criteria provided, single submitter | Aug 31, 2021 | RCV001795553.4 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Uncertain significance
(Aug 31, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Affected status: unknown
Allele origin:
unknown
|
Illumina Laboratory Services, Illumina
Accession: SCV002034756.1
First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
Comment:
The PIK3CD c.1579G>A (p.Glu527Lys) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications … (more)
The PIK3CD c.1579G>A (p.Glu527Lys) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Glu527Lys variant is reported at a frequency of 0.000009 in the European (non-Finnish) population of the Genome Aggregation Database (version 2.1.1), though this is based on one allele in a region of good sequence coverage so the variant is presumed to be rare. Multiple lines of computational evidence suggest that this variant may have a deleterious impact, though these predictions have not been confirmed experimentally. Based on the identification of the variant in a de novo state, and the available evidence, the p.Glu527Lys variant is classified as a variant of uncertain significance for activated PI3K-delta syndrome. (less)
|
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 Apr 09, 2023