BRAF

Curated reports relevant to this gene

• Noonan Syndrome

  • Autosomal dominant

    Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.

    • ClinGen rates the link moderate
    • 4 GenCC submitters rate it definitive or strong

    ▶Actionability

    Cardiac surveillance, developmental support, growth hormone therapy, genetic counseling, MEK inhibitor trials

  • Noonan Syndrome and Noonan-Related Syndromes

    A group of RAS pathway conditions, including Noonan, Costello, cardiofaciocutaneous and Legius syndromes, with variable heart defects, short stature and distinctive facial features.

    • ClinGen rates the link definitive
    • 6 GenCC submitters rate it definitive or strong

    ▶Actionability

    Knowing about it supports heart, growth and developmental assessment.

Broader groupings

• Hypertrophic Cardiomyopathy

  • Autosomal dominant

    One of 62 genes linked to it

    A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

    • ClinGen rates the link definitive
    • 6 GenCC submitters rate it definitive or strong

    ▶Actionability

    Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

How BRAF is laid out

Exons make up 6.5 kb of the gene's 194.3 kb; 2,301 of those bases code for the protein.

Sequencing BRAF

Variants with a page (10)

The BRAF variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

ClinVar pathogenic variants (108)

The BRAF variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.

• Pathogenic 66
• Pathogenic/likely pathogenic 4
• Likely pathogenic 38

See all 108 with every other BRAF variant in ClinVar → (opens in a new tab)

Genes linked to the same conditions

• ERFETS2 repressor factorShares 3 conditions
• KRASKRas proto-oncogene, GTPaseShares 3 conditions
• LZTR1leucine zipper like post translational regulator 1Shares 3 conditions
• MAPK1mitogen-activated protein kinase 1Shares 3 conditions
• MRASmuscle RAS oncogene homologShares 3 conditions
• NRASNRAS proto-oncogene, GTPaseShares 3 conditions
• PPP1CBprotein phosphatase 1 catalytic subunit betaShares 3 conditions
• PTPN11protein tyrosine phosphatase non-receptor type 11Shares 3 conditions
• RAF1Raf-1 proto-oncogene, serine/threonine kinaseShares 3 conditions
• RIT1Ras like without CAAX 1Shares 3 conditions
• RRAS2RAS related 2Shares 3 conditions
• SHOC2SHOC2 leucine rich repeat scaffold proteinShares 3 conditions

Traits linked to BRAF

The Human Phenotype Ontology lists these as features of the rare conditions BRAF can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

• HGNC: the gene's symbol, name, other symbols and location.
• MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
• GenCC and ClinGen, released 2026-10-21: which conditions the gene is linked to, and how strongly.
• The ACMG secondary findings list, SF v3.2.
• ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
• The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
• The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
• Data release 2026.10.21-c791e85a.

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