← Genclarus

rs80357906

NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)

BRCA1p.Gln1756ProfsDuplication
ClinVar by condition
  • Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)Pathogenic · ★★★ · germline
  • Hereditary breast ovarian cancer syndromePathogenic · ★★ · germline
  • Familial cancer of breastPathogenic · ★★ · germline
  • Hereditary cancer-predisposing syndromePathogenic · ★★ · germline
  • Inherited breast cancer and ovarian cancerPathogenic · ★ · germline
  • BRCA1-related cancer predispositionPathogenic · ★ · germline
  • Pancreatic cancer, susceptibility to, 4Pathogenic · ★ · germline
  • Fanconi anemia, complementation group S (FANCS)Pathogenic · ★ · germline
  • Breast and/or ovarian cancerPathogenic · ★ · germline
  • Punctate palmoplantar keratoderma type 2 (PPKP2)Pathogenic · ★ · germline
  • Ovarian neoplasmPathogenic · ★ · germline
  • Breast neoplasmPathogenic · ★ · germline

rs80357906 is a genetic variant located in the BRCA1 gene. dbsnp · gene

In ClinVar, rs80357906 is classified as Pathogenic for Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1) (3 review stars, germline; last evaluated 2016-04-22). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80357906 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, rs80357906 is classified as Pathogenic for Familial cancer of breast (2 review stars, germline; last evaluated 2024-11-25). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80357906 is classified as Pathogenic for Hereditary cancer-predisposing syndrome (2 review stars, germline; last evaluated 2024-07-10). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80357906 is classified as Pathogenic for Inherited breast cancer and ovarian cancer (1 review star, germline; last evaluated 2024-10-23). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80357906 is classified as Pathogenic for BRCA1-related cancer predisposition (1 review star, germline; last evaluated 2024-09-28). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80357906 is classified as Pathogenic for Pancreatic cancer, susceptibility to, 4 (1 review star, germline; last evaluated 2024-03-14). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80357906 is classified as Pathogenic for Fanconi anemia, complementation group S (FANCS) (1 review star, germline; last evaluated 2024-03-14). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80357906 is classified as Pathogenic for Breast and/or ovarian cancer (1 review star, germline; last evaluated 2023-03-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80357906 is classified as Pathogenic for Punctate palmoplantar keratoderma type 2 (PPKP2) (1 review star, germline; last evaluated 2017-07-21). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80357906 is classified as Pathogenic for Ovarian neoplasm (1 review star, germline; last evaluated 2014-05-29). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80357906 is classified as Pathogenic for Breast neoplasm (1 review star, germline). clinvar · classificationclinvar · review confidenceclinvar · origin

In ClinVar, rs80357906 is classified as Pathogenic for BRCA1-related disorder (0 review stars, germline; last evaluated 2024-06-26). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80357906 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, rs80357906 is classified as Risk factor for Pancreatic cancer, susceptibility to (0 review stars; last evaluated 2008-10-15). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs80357906 is classified as Uncertain significance for Malignant tumor of breast (0 review stars). clinvar · classificationclinvar · review confidence

In ClinVar, rs80357906 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 2ec5d2181317bf2f · 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.