Is BRCA1 p.Asp1733del (c.5197_5199del) pathogenic?

BRCA1 p.Asp1733del (c.51975199del) is classified Uncertain significance in BRCA1 (ClinVar, Single submitter, 1 submitter; last evaluated 2019-09-25). Absent from gnomAD; Associated with hereditary neoplastic syndrome.

What condition is associated with BRCA1 p.Asp1733del (c.5197_5199del)?

BRCA1 p.Asp1733del (c.5197_5199del) is associated with hereditary neoplastic syndrome (ClinVar).

How common is BRCA1 p.Asp1733del (c.5197_5199del) in the general population?

BRCA1 p.Asp1733del (c.5197_5199del) is absent from gnomAD (gnomAD).

BRCA1 p.Asp1733del

c.5197_5199del · rs1597811041 · VCV825530

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

hereditary neoplastic syndrome

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 9	GERP 1.6, phastCons 1

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: BRCA1
Protein: p.Asp1733del
Coding: c.5197_5199del
MANE Select: NM_007294
dbSNP: rs1597811041
Type: Deletion
Location: chr17:43057130 (GRCh38)
Gene constraint: LOEUF 0.885 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 41.99 · 33 PDB
Residue 1733: the brct 1 domain; a UniProt-annotated variant site (in fancs); an α-helix

Full BRCA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hereditary neoplastic syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BRCA1 p.Asp1733Gly Benign ★★★ ⚠ same residue
BRCA1 p.Asp1733Asn Uncertain significance ★★ ⚠ same residue
BRCA1 p.Asp1733His Uncertain significance ★ ⚠ same residue
BRCA1 p.Asp1733Val Conflicting classifications of pathogenicity ★ ⚠ same residue
BRCA1 c.302-2del Pathogenic ★★★ same condition
BRCA1 c.442-22_442-13del Pathogenic ★★★ same condition
BRCA1 c.5277+1_5277+6del Pathogenic ★★★ same condition
BRCA1 c.5333-36_5406+400del 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/brca1-p-asp1733del (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown