BRCA1 p.Cys44Ser
c.131_132delinsCT · VCV3572265
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 1.8, phastCons 1 |
| Regional constraint | o/e 0.91 | unconstrained · MANE · 78 kb · p 4.8e-05 · regional, not allelic |
Variant & gene context
- Gene
- BRCA1
- Protein
- p.Cys44Ser
- Coding
- c.131_132delinsCT
- MANE Select
- NM_007294
- Type
- Indel
- Location
- chr17:43115728 (GRCh38)
- Gene constraint
- LOEUF 0.885 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 41.99 · 33 PDB
Similar variants
- BRCA1 p.Cys44= Pathogenic ★★★ same residue
- BRCA1 p.Cys44fs Pathogenic ★★★ same residue
- BRCA1 p.Cys44Phe Pathogenic ★★★ same residue
- BRCA1 p.Cys44Tyr Pathogenic ★★★ same residue
- BRCA1 p.Cys44Arg Pathogenic ★ same residue
- BRCA1 p.Cys44Trp Likely pathogenic ★ same residue
- BRCA1 p.Cys44_Lys45insAsnLeuGluLeuIleLysGluProValSerThrLysCysAspHisIlePheCys Uncertain significance ★ same residue
- BRCA1 c.4185+2_4185+22delinsA Pathogenic ★★★ same type
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/brca1-p-cys44ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown