Is BRCA2 p.Asp2202= (c.6606T>C) pathogenic?

BRCA2 p.Asp2202= (c.6606T>C) is classified Likely benign in BRCA2 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2024-10-05). Very rare (popmax 0.00017%, nfe); Associated with Breast and/or ovarian cancer.

What condition is associated with BRCA2 p.Asp2202= (c.6606T>C)?

BRCA2 p.Asp2202= (c.6606T>C) is associated with Breast and/or ovarian cancer, hereditary breast ovarian cancer syndrome (ClinVar).

How common is BRCA2 p.Asp2202= (c.6606T>C) in the general population?

BRCA2 p.Asp2202= (c.6606T>C) is very rare (popmax 0.00017%, nfe) (gnomAD).

BRCA2 p.Asp2202=

c.6606T>C · rs960827657 · VCV1110743

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00017%, nfe)

Conditions

Breast and/or ovarian cancer

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.3	GERP -1.8, phastCons 0.008
Overall
CADD	5.525	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00017% European (non-Finnish) · 2/1,178,800 alleles

Filtering AF 2.8e-05% ClinGen BA1/BS1 input FAF95, joint · FAF99 1.1e-05%

Overall 0.000137% 2/1,456,732 alleles · very rare

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: BRCA2
Protein: p.Asp2202=
Coding: c.6606T>C
MANE Select: NM_000059
dbSNP: rs960827657
Type: single nucleotide variant
Location: chr13:32340961 (GRCh38)
Gene constraint: LOEUF 0.803 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)

Full BRCA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Breast and/or ovarian cancer — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: hereditary breast ovarian cancer syndrome

Similar variants

BRCA2 p.Asp2202Glu Uncertain significance ★ same residue
BRCA2 p.Asp2202His Conflicting classifications of pathogenicity ★ same residue
BRCA2 p.Asp2202Val Conflicting classifications of pathogenicity ★ same residue
BRCA2 p.Asp2202Ala Uncertain significance ★ same residue
BRCA2 c.316+2T>C Pathogenic ★★★ same condition
BRCA2 c.316+5G>A Pathogenic ★★★ same condition
BRCA2 c.316+5G>C Pathogenic ★★★ same condition
BRCA2 c.475+1G>A 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/brca2-p-asp2202 (accessed [today's date]).

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