Genetic Information
Gene & Transcript Details
Gene
POLD1
Transcript
NM_002691.4
MANE Select
Total Exons
—
Reference Sequence
NC_000019.9
Alternative Transcripts
| ID | Status | Details |
|---|---|---|
| NM_002691.2 | Alternative | 3470 nt | 57–3380 |
| NM_002691.4 | MANE Select | 3436 nt | 46–3369 |
| NM_002691.1 | Alternative | 3443 nt | 54–3377 |
| NM_002691.3 | Alternative | 3464 nt | 70–3393 |
Variant Details
HGVS Notation
NM_002691.4:c.2953C>T
Protein Change
R985W
Location
Exon 23
(Exon 23 of )
23
5'Exon Structure3'
Functional Consequence
Loss of Function
Alternate Identifiers
—
Clinical & Population Data
Population Frequency
gnomAD Global Frequency
0.00107 in 100,000
Extremely Rare
ACMG Criteria Applied
PM2
This variant is absent or extremely rare in population databases (PM2 criteria applies).
ClinVar
OpenClassification
Uncertain Significance (VUS)
1 publications
Clinical Statement
"This variant has been reported in ClinVar as Uncertain significance (5 clinical laboratories)."
COSMIC Somatic Evidence
OpenCOSMIC ID
Recurrence
0 occurrences
PM1 Criteria
Not Applied
COSMIC Database Preview
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Functional Impact & Domains
Functional Domain
Hotspot Status
Not a hotspot
Domain Summary
This variant is not located in a mutational hotspot or critical domain.
Related Variants in This Domain
No evidence of other pathogenic variants at this position in gene POLD1.
Functional Summary
Error in OpenAI Consolidation. OncoKB: POLD1R985WPOLD1R985WSomaticNCBI Gene:5424|Show additional gene information Variant OverviewPOLD1, a DNA polymerase, is infrequently altered by mutation in cancer.The POLD1 R985W mutation has not specifically been reviewed by the OncoKB team, and therefore its biological significance is unknown. JAX-CKB: No results found
Database Previews
OncoKB
JAX-CKB
Click on previews to view full database entries. External databases may require institutional access.
Computational Analysis
Pathogenicity Predictions
SpliceAIPredictor Consensus
Mixed/VUS
PP3 Applied
Yes
REVEL Score
0.0
Threshold: ≥0.75 = PP3 applied
SpliceAI Scores
Window: ±500bp| Effect Type | Score | Position |
|---|---|---|
| Acceptor Loss (AL) | 0.01 | -106 bp |
| Donor Loss (DL) | 0.03 | -10 bp |
| Acceptor Gain (AG) | 0.0 | 416 bp |
| Donor Gain (DG) | 0.59 | -2 bp |
High impact (≥0.5)
Medium impact (0.2-0.49)
Low impact (<0.2)
VCEP Guidelines
Applied ACMG/AMP Criteria (VCEP Specific)
Filter Criteria:
PM2
PM2 (Unknown (Pre-LLM))
From pre-LLM assessment (LLM Failed)
PP3
PP3 (Unknown (Pre-LLM))
From pre-LLM assessment (LLM Failed)