← Genclarus

rs80359550

NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)

BRCA2frameshift variantp.Ser1982fsDeletion
ClinVar by condition
  • BRCA2-related cancer predispositionPathogenic · ★★★ · germline
  • Hereditary cancer-predisposing syndromePathogenic · ★★ · germline
  • Hereditary breast ovarian cancer syndromePathogenic · ★★ · germline
  • Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)Pathogenic · ★★ · germline
  • Familial cancer of breastPathogenic · ★★ · germline
  • Fanconi anemia complementation group D1Pathogenic · ★ · germline
  • Medulloblastoma (MDB)Pathogenic · ★ · germline
  • Wilms tumor 1 (WT1)Pathogenic · ★ · germline
  • Pancreatic cancer, susceptibility to, 2Pathogenic · ★ · germline
  • Glioma susceptibility 3 (GLM3)Pathogenic · ★ · germline
  • Familial prostate cancerPathogenic · ★ · germline
  • Breast and/or ovarian cancerPathogenic · ★ · germline

gnomAD allele frequency 1.59e-4

rs80359550 is a genetic variant located in the BRCA2 gene. dbsnp · gene

In gnomAD, rs80359550 has an overall allele frequency of 0.02%. gnomad · frequency

In ClinVar, rs80359550 is classified as Pathogenic for BRCA2-related cancer predisposition (3 review stars, germline; last evaluated 2024-06-11). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80359550 is classified as Pathogenic for Hereditary cancer-predisposing syndrome (2 review stars, germline; last evaluated 2025-02-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80359550 is classified as Pathogenic for Hereditary breast ovarian cancer syndrome (2 review stars, germline; last evaluated 2025-02-03). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80359550 is classified as Pathogenic for Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2) (2 review stars, germline; last evaluated 2024-07-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80359550 is classified as Pathogenic for Familial cancer of breast (2 review stars, germline; last evaluated 2024-05-06). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80359550 is classified as Pathogenic for Fanconi anemia complementation group D1 (1 review star, germline; last evaluated 2024-05-21). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80359550 is classified as Pathogenic for Medulloblastoma (MDB) (1 review star, germline; last evaluated 2024-05-21). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80359550 is classified as Pathogenic for Wilms tumor 1 (WT1) (1 review star, germline; last evaluated 2024-05-21). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80359550 is classified as Pathogenic for Pancreatic cancer, susceptibility to, 2 (1 review star, germline; last evaluated 2024-05-21). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80359550 is classified as Pathogenic for Glioma susceptibility 3 (GLM3) (1 review star, germline; last evaluated 2024-05-21). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80359550 is classified as Pathogenic for Familial prostate cancer (1 review star, germline; last evaluated 2024-05-21). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80359550 is classified as Pathogenic for Breast and/or ovarian cancer (1 review star, germline; last evaluated 2022-03-06). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80359550 is classified as Pathogenic for BRCA2-related disorder (1 review star, germline; last evaluated 2017-04-28). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80359550 is classified as Pathogenic for Breast neoplasm (1 review star, germline). clinvar · classificationclinvar · review confidenceclinvar · origin

In ClinVar, rs80359550 is classified as Pathogenic for Endometrial carcinoma (0 review stars, germline; last evaluated 2023-02-21). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80359550 is classified as Pathogenic for Ovarian neoplasm (0 review stars, germline; last evaluated 2018-12-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80359550 is classified as Pathogenic for Fanconi anemia complementation group D1 (0 review stars; last evaluated 2016-09-12). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs80359550 is classified as Risk factor for Pancreatic cancer, susceptibility to, 2 (0 review stars; last evaluated 2016-09-12). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs80359550 is classified as not provided for Fanconi anemia complementation group D1 (0 review stars). clinvar · classificationclinvar · review confidence

In ClinVar, rs80359550 is classified as not provided for Hereditary breast ovarian cancer syndrome (0 review stars). clinvar · classificationclinvar · review confidence

In ClinVar, rs80359550 is classified as Pathogenic for not provided (2 review stars, germline; last evaluated 2025-03-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

Sources

retrieved 2026-08-03 · facts 8a917448d0124428 · meta/llama-3.1-8b-instruct · prompt 4.0.1 · schema 3.0.0

Educational information only — not medical advice, a diagnosis, or a clinical interpretation. A variant's significance can be uncertain, conflicting, or dependent on your full clinical and family context. Consult a qualified genetics professional or genetic counselor before drawing any conclusion.