Genetic Information
Gene & Transcript Details
Gene
BRIP1
Transcript
NM_032043.3
MANE Select
Total Exons
—
Reference Sequence
NC_000017.10
Alternative Transcripts
| ID | Status | Details |
|---|---|---|
| NM_032043.2 | RefSeq Select | 8166 nt | 307–4056 |
| NM_032043.1 | Alternative | 4563 nt | 142–3891 |
| NM_032043.3 | MANE Select | 8182 nt | 276–4025 |
Variant Details
HGVS Notation
NM_032043.3:c.3069C>T
Protein Change
L1023=
Location
Exon 20
(Exon 20 of )
20
5'Exon Structure3'
Functional Consequence
Loss of Function
Alternate Identifiers
—
Clinical & Population Data
Population Frequency
gnomAD Global Frequency
0.0106 in 100,000
Extremely Rare
ACMG Criteria Applied
PM2
This variant is absent or extremely rare in population databases (PM2 criteria applies).
ClinVar
OpenClassification
Likely Benign
2 publications
Publications List
PMID: 31214711
Curator: Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa.
Clinical Statement
"This variant has been reported in ClinVar as Likely benign (8 clinical laboratories) and as Benign (3 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 BRIP1.
Functional Summary
Error in OpenAI Consolidation. OncoKB: BRIP1L1023=BRIP1L1023=SomaticNCBI Gene:83990|Show additional gene information Variant OverviewBRIP1, a DEAH helicase, is altered by mutation and amplification in various cancers, including breast cancer and melanoma.This is a synonymous mutation and is not annotated by OncoKB. 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
No
REVEL Score
0.0
Threshold: ≥0.75 = PP3 applied
SpliceAI Scores
Window: ±500bp| Effect Type | Score | Position |
|---|---|---|
| Acceptor Loss (AL) | 0.01 | 163 bp |
| Donor Loss (DL) | 0.0 | -252 bp |
| Acceptor Gain (AG) | 0.0 | 154 bp |
| Donor Gain (DG) | 0.0 | 29 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)
BP4
BP4 (Unknown (Pre-LLM))
From pre-LLM assessment (LLM Failed)
BP6
BP6 (Unknown (Pre-LLM))
From pre-LLM assessment (LLM Failed)