Is BRCA2 p.Val2263fs (c.6787delinsTT) pathogenic?

BRCA2 p.Val2263fs (c.6787delinsTT) is classified Likely pathogenic in BRCA2 (ClinVar, Single submitter, 1 submitter). Associated with Fanconi anemia complementation group D1.

What condition is associated with BRCA2 p.Val2263fs (c.6787delinsTT)?

BRCA2 p.Val2263fs (c.6787delinsTT) is associated with Fanconi anemia complementation group D1, medulloblastoma, Wilms tumor 1 (ClinVar).

BRCA2 p.Val2263fs

Q: How is Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations inherited?

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

c.6787delinsTT · VCV3382068

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Fanconi anemia complementation group D1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 11 of 27
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.44	GERP -4.6

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: BRCA2
Protein: p.Val2263fs
Coding: c.6787delinsTT
MANE Select: NM_000059
Type: Indel
Location: chr13:32341142 (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

Fanconi anemia complementation group D1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: medulloblastoma Wilms tumor 1 breast-ovarian cancer, familial, susceptibility to, 2 glioma susceptibility 3 pancreatic cancer, susceptibility to, 2 hereditary breast carcinoma prostate cancer, hereditary

For Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations (Orphanet):

Inheritance: Autosomal recessive

Similar variants

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BRCA2 c.8954-1_8955delinsAA Pathogenic ★★★ same condition
BRCA2 n.8149_8154del6insAG Pathogenic ★★★ same condition
BRCA2 p.Arg1160_Asp1161delinsTer Pathogenic ★★★ same condition
BRCA2 p.Arg2799fs Pathogenic ★★★ same condition
BRCA2 p.Glu1608fs 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-val2263fs (accessed [today's date]).

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