Is BRCA1 p.Arg613_Ser616del (c.1838_1849del) pathogenic?

BRCA1 p.Arg613Ser616del (c.18381849del) is classified Uncertain significance in BRCA1 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-01-16). Absent from gnomAD; Associated with hereditary breast ovarian cancer syndrome.

What condition is associated with BRCA1 p.Arg613_Ser616del (c.1838_1849del)?

BRCA1 p.Arg613_Ser616del (c.1838_1849del) is associated with hereditary breast ovarian cancer syndrome (ClinVar).

How common is BRCA1 p.Arg613_Ser616del (c.1838_1849del) in the general population?

BRCA1 p.Arg613_Ser616del (c.1838_1849del) is absent from gnomAD (gnomAD).

How is Hereditary breast and/or ovarian cancer syndrome inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

BRCA1 p.Arg613_Ser616del

c.1838_1849del · rs2552197820 · VCV2709509

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 breast ovarian cancer 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 0.63	GERP -1.1, phastCons 0.028

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.Arg613_Ser616del
Coding: c.1838_1849del
MANE Select: NM_007294
dbSNP: rs2552197820
Type: Deletion
Location: chr17:43093682 (GRCh38)
Gene constraint: LOEUF 0.885 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 41.99 · 33 PDB

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

Disease context

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

For Hereditary breast and/or ovarian cancer syndrome (Orphanet):

Inheritance: Autosomal dominant
Onset: Adult, Elderly

Similar variants

BRCA1 p.Arg613fs Pathogenic ★★★ same residue
BRCA1 p.Arg613= Conflicting classifications of pathogenicity ★ same residue
BRCA1 p.Arg613Gly Conflicting classifications of pathogenicity ★ ⚠ same residue
BRCA1 p.Arg613Lys Conflicting classifications of pathogenicity ★ ⚠ same residue
BRCA1 c.302-2del Pathogenic ★★★ same condition
BRCA1 c.442-22_442-13del Pathogenic ★★★ same condition
BRCA1 c.4484+1del Pathogenic ★★★ same condition
BRCA1 c.5277+1_5277+6del 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-arg613-ser616del (accessed [today's date]).

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