PIK3CA c.2188-7dupT, p.?
NM_006218.4:c.2188-7dupT
Population Frequency
0.0233%
Common
ClinVar Classification
Benign
0 publications
REVEL Score
N/A
Not Available
COSMIC Recurrence
0 occurrences
No Criteria Applied
Classification Evidence
Detailed Information
Genetic Information
Gene & Transcript Details
Gene
PIK3CA
Transcript
NM_006218.4
MANE Select
Total Exons
21
Strand
Forward (+)
Reference Sequence
NC_000003.11
Alternative Transcripts
| ID | Status | Details |
|---|---|---|
| NM_006218.2 | Alternative | 21 exons | Forward |
| NM_006218.3 | Alternative | 21 exons | Forward |
Variant Details
HGVS Notation
NM_006218.4:c.2188-7dupT
Protein Change
?
Location
Exon 14i
(Exon 14i of 21)
5'
Exon Structure (21 total)
3'
Functional Consequence
Missense Variant
Related Variants
Variant interpretation based on transcript NM_006218.4
Clinical Evidence
Global Frequency
0.0233%
Low Frequency
Highest in Population
Ashkenazi Jewish
0.0616%
Common
Global: 0.0233%
Ashkenazi Jewish: 0.0616%
0%
0.0005%
0.001%
0.01%
0.05%
1%+
Allele Information
Total: 240780
Alt: 56
Homozygotes: 0
ACMG Criteria Applied
PM2
This variant is common in the population (0.023300% MAF).
Classification
Benign
Based on 1 submitter review in ClinVar
Submitter Breakdown
Pathogenic
Likely Pathogenic
VUS
Likely Benign
Benign
Publications
0 publications
Clinical Statement
This variant has been reported in ClinVar as Benign (1 clinical laboratories).
Functional Domain
Hotspot Status
Not a hotspot
Domain Summary
This variant is not located in a mutational hotspot or critical domain (0 mutations).
Related Variants in This Domain
Functional Studies
Summary
The variant PIK3CA c.2188-7dup has not been functionally characterized in the provided sources.
Computational Evidence
Pathogenicity Predictions
Predictor Consensus
Unknown
PP3 Applied
No
VCEP Guidelines
Applied ACMG/AMP Criteria
VCEP Guidelines
PM2
PM2 (Supporting)
Strength Modified
According to VCEP guidelines: 'Supporting Absent/rare from controls in an ethnically-matched cohort population sample (≥1).' The evidence for this variant shows: The variant has a minor allele frequency (MAF) of 0.0233% in gnomAD, indicating it is rare. Therefore, this criterion meets the requirements because the variant is present at a very low frequency in the population.
BP4
BP4 (Supporting)
According to VCEP guidelines: 'Award BP4 for a synonymous, intronic positions (except canonical splice sites) or non-coding variants in the UTRs, if two out of three of the splicing prediction tools predicted no impact on splicing function.' The evidence for this variant shows: SpliceAI analysis indicates a maximum score of 0.01 for acceptor loss, suggesting no significant effect on splicing function. Therefore, this criterion meets the requirements because the computational predictions indicate a lack of impact on splicing.
BP6
BP6 (Supporting)
According to VCEP guidelines: 'Reputable source recently reports variant as benign, but the evidence is not available to the laboratory to perform an independent evaluation.' The evidence for this variant shows: It has been reported as benign in ClinVar by one clinical laboratory. Therefore, this criterion meets the requirements because there is a reputable source supporting the benign classification.