Is BRCA2 c.7007+2936del pathogenic?

BRCA2 c.7007+2936del is classified Benign in BRCA2 (ClinVar, Expert panel, 1 submitter; last evaluated 2016-09-28). Common (popmax 47.5%, nfe) — too common for a highly-penetrant pathogenic allele; Associated with breast-ovarian cancer, familial, susceptibility to, 2.

What condition is associated with BRCA2 c.7007+2936del?

BRCA2 c.7007+2936del is associated with breast-ovarian cancer, familial, susceptibility to, 2 (ClinVar).

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

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

BRCA2 c.7007+2936del

Q: How common is BRCA2 c.7007+2936del in the general population?

BRCA2 c.7007+2936del is common (popmax 47.5%, nfe) — too common for a highly-penetrant pathogenic allele (gnomAD).

rs11327981 · VCV264865

Benign Expert panel

Classification

Benign

ClinVar

Review

Expert panel ★★★☆

ClinVar · 1 submitter

gnomAD v4.1

Common

common (popmax 47.5%, nfe) — too common for a highly-penetrant pathogenic allele

Conditions

breast-ovarian cancer, familial, susceptibility to, 2

Computational evidence

Protein change
Missense predictors do not apply to this variant type.
Splicing
Splice region	donor +2936	deep intronic (+2936 nt into the intron)
SpliceAI	—	not assessed · substitutions only
Overall
CADD	0.976	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 47.5% European (non-Finnish) · 27,351/57,558 alleles

Filtering AF 47% ClinGen BA1/BS1 input FAF95, joint · FAF99 46.9%

Overall 45.6% 52,550/115,180 alleles · common

Ancestry group	Frequency	1 in
Finnishnot grpmax-eligible	56.4%	2
European (non-Finnish)grpmax	47.5%	2
East Asian	46.1%	2
Remaining individualsnot grpmax-eligible	44.5%	2
Ashkenazi Jewishnot grpmax-eligible	42.8%	2
African / African-American	42.6%	2
Admixed American	42.5%	2
South Asian	40.2%	2
Amishnot grpmax-eligible	37.5%	3
Middle Eastern	35.4%	3

Finnish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

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
Coding: c.7007+2936del
MANE Select: NM_000059
dbSNP: rs11327981
Type: Deletion
Location: chr13:32349815 (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-ovarian cancer, familial, susceptibility to, 2 — 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

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BRCA2 c.7008-?_7805+?del Pathogenic ★★★ same condition
BRCA2 c.7980_7984delTGATA Pathogenic ★★★ same condition
BRCA2 c.8312del Pathogenic ★★★ same condition
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BRCA2 c.8633-24_8634del 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-c-7007-plus-2936del (accessed [today's date]).

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