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Gene entry

BRAF

B-Raf proto-oncogene, serine/threonine kinase

Chromosome
7
Cytoband
7q34
Variants (rsID)
48

BRAF is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q34). Its official name is “B-Raf proto-oncogene, serine/threonine kinase”. The reference table lists 48 variants (rsID) for this gene.

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Clinically classified variants

24 reference-table entries with clinical significance.

  • rs369635503Benignsingle nucleotide variantRASopathy
  • rs397507456Benignsingle nucleotide variantRASopathy|Cardiomyopathy|LEOPARD syndrome 3|Noonan syndrome 7|Noonan syndrome and Noonan-related syndrome
  • rs200002171Conflicting interpretationssingle nucleotide variantNoonan syndrome 7|LEOPARD syndrome 3|RASopathy
  • rs794727865Conflicting interpretationssingle nucleotide variantRASopathy
  • rs727502903Likely benignsingle nucleotide variantNoonan syndrome 7|LEOPARD syndrome 3|RASopathy
  • rs727502906Likely benignsingle nucleotide variantRASopathy
  • rs113488022Pathogenicsingle nucleotide variantCarcinoma of colon|Papillary thyroid carcinoma|Astrocytoma, low-grade, somatic|Nongerminomatous germ cell tumor|Non-small cell lung carcinoma|Melanoma|Cardio-facio-cutaneous syndrome|Malignant melanoma of skin|Squamous cell carcinoma of the head and neck|Colonic neoplasm|Glioblastoma|Neoplasm of ovary|Lung adenocarcinoma|Brainstem glioma|Papillary renal cell carcinoma, sporadic|Multiple myeloma|Neoplasm of the large intestine|Lung carcinoma|Neoplasm of brain|Gastrointestinal stromal tumor|Neoplasm|Cystic epithelial invagination containing papillae lined by columnar epithelium|Cerebral arteriovenous malformation|Vemurafenib-Cobimetinib Response|Colorectal cancer|Trametinib-Dabrafenib Response|Nephroblastoma|Malignant neoplastic disease|Lymphangioma|See cases
  • rs121913341Pathogenicsingle nucleotide variantCardio-facio-cutaneous syndrome|Neoplasm|Melanoma|RASopathy
  • rs121913355Pathogenicsingle nucleotide variantNon-Hodgkin lymphoma|Non-small cell lung carcinoma|Neoplasm of the large intestine|Squamous cell carcinoma of the skin|Lung adenocarcinoma|Neoplasm|Malignant melanoma of skin|Squamous cell lung carcinoma|Prostate adenocarcinoma|Lung carcinoma|Transitional cell carcinoma of the bladder|Multiple myeloma
  • rs121913364Pathogenicsingle nucleotide variantCarcinoma of colon|Thyroid cancer, nonmedullary, 2|Non-small cell lung carcinoma|Gastric adenocarcinoma|Malignant neoplasm of body of uterus|Malignant melanoma of skin|Lung adenocarcinoma|Thyroid tumor|Prostate adenocarcinoma|B-cell chronic lymphocytic leukemia|Neoplasm|Melanoma
  • rs121913375Pathogenicsingle nucleotide variantMelanoma|Neoplasm|Noonan syndrome|RASopathy|Cardiofaciocutaneous syndrome 1
  • rs121913376Pathogenicsingle nucleotide variantMelanoma|RASopathy|Ataxia-telangiectasia syndrome
  • rs180177034Pathogenicsingle nucleotide variantCardiofaciocutaneous syndrome 1|Noonan syndrome|Cardio-facio-cutaneous syndrome|Cardio-facio-cutaneous syndrome|Noonan syndrome|RASopathy
  • rs180177035Pathogenicsingle nucleotide variantCardiofaciocutaneous syndrome 1|RASopathy|Cardio-facio-cutaneous syndrome|Inborn genetic diseases|Cardiofaciocutaneous syndrome 1|Noonan syndrome 7|LEOPARD syndrome 3|Noonan syndrome 7|LEOPARD syndrome 3|Noonan syndrome and Noonan-related syndrome|Noonan syndrome 1
  • rs180177036Pathogenicsingle nucleotide variantCardiofaciocutaneous syndrome 1|Cardio-facio-cutaneous syndrome|Cardio-facio-cutaneous syndrome|Noonan syndrome|RASopathy|Inborn genetic diseases|Ataxia-telangiectasia syndrome
  • rs180177037Pathogenicsingle nucleotide variantCardiofaciocutaneous syndrome 1|RASopathy|Noonan syndrome and Noonan-related syndrome
  • rs180177038Pathogenicsingle nucleotide variantCardiofaciocutaneous syndrome 1|RASopathy|Noonan syndrome|Cardio-facio-cutaneous syndrome
  • rs180177039Pathogenicsingle nucleotide variantCardiofaciocutaneous syndrome 1|Cardio-facio-cutaneous syndrome|10 conditions|RASopathy|Familial cardiofaciocutaneous syndrome
  • rs180177040Pathogenicsingle nucleotide variantCardiofaciocutaneous syndrome 1|Cardio-facio-cutaneous syndrome|RASopathy|Inborn genetic diseases
  • rs180177042Pathogenicsingle nucleotide variantCardiofaciocutaneous syndrome 1|Inborn genetic diseases|Noonan syndrome 7|LEOPARD syndrome 3|Cardiofaciocutaneous syndrome 1|Noonan syndrome 1|Lung carcinoma|RASopathy
  • rs387906661Pathogenicsingle nucleotide variantCardiofaciocutaneous syndrome 1|LEOPARD syndrome 3|Noonan syndrome with multiple lentigines|Cardio-facio-cutaneous syndrome|Lung carcinoma|Noonan syndrome 1|Cardiofaciocutaneous syndrome 1|LEOPARD syndrome 3|Noonan syndrome 7|RASopathy|Cardiofaciocutaneous syndrome 1|LEOPARD syndrome 3|Noonan syndrome 7|Noonan syndrome 7
  • rs794729219Pathogenicsingle nucleotide variantCardiofaciocutaneous syndrome 1|Melanoma|Cardio-facio-cutaneous syndrome|Prostate cancer, hereditary, 1
  • rs869025606Pathogenicsingle nucleotide variantCardio-facio-cutaneous syndrome
  • rs121913340Uncertain significancesingle nucleotide variantMelanoma|Neoplasm

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.