BRIP1 p.Ser85Ter
c.254C>G · rs587781830 · VCV1074046
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
2
Fanconi anemia complementation group J
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 4 of 20 |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 5.1 | GERP 1.4, phastCons 1 |
| Overall | ||
| CADD | 35.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- BRIP1
- Protein
- p.Ser85Ter
- Coding
- c.254C>G
- MANE Select
- NM_032043
- dbSNP
- rs587781830
- Type
- single nucleotide variant
- Location
- chr17:61857183 (GRCh38)
- Gene constraint
- LOEUF 0.848 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 64.19 · 6 PDB
- Residue 85
- the helicase atp-binding domain
Similar variants
- BRIP1 p.Ser85Leu Uncertain significance ★★ ⚠ same residue
- BRIP1 p.Ser85Pro Uncertain significance ★★ ⚠ same residue
- BRIP1 p.Ser85= Benign/Likely benign ★★ same residue
- BRIP1 p.Ser85Ala Uncertain significance ★ ⚠ same residue
- BRIP1 c.1140+1G>A Likely pathogenic ★★ same condition
- BRIP1 c.1141-2A>C Likely pathogenic ★★ same condition
- BRIP1 c.1141-2A>G Likely pathogenic ★★ same condition
- BRIP1 c.1141-2A>T Likely pathogenic ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/brip1-p-ser85ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown