--- title: "BRAF F247V (c.739T>G, rs397516903) | Dante Labs" description: "ClinVar classifies BRAF F247V as Likely pathogenic (reviewed by expert panel). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/braf/variants/f247v" --- 1. [Genes](https://dantelabs.com/genes) 2. [BRAF](https://dantelabs.com/genes/braf) 3. BRAF F247V Variant # BRAF F247V NM_004333.6(BRAF):c.739T>G (p.Phe247Val) Also known as - p.Phe247Val - p.F247V - rs397516903 * ClinVar classification Likely pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 10 May 2019 * Expert panel ClinGen RASopathy Variant Curation Expert Panel Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary F247V is a missense variant in BRAF: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for Noonan Syndrome and Noonan-Related Syndromes (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | --------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | ----------------- | ----------------------------------------- | ------------ | -------------- | | [Noonan Syndrome and Noonan-Related Syndromes](https://dantelabs.com/conditions/noonan-syndrome) [ClinVar VCV000044830 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/44830/) | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 10 May 2019 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in BRAF F247V lies in exon 6 of the 18 in BRAF's MANE Select transcript, NM_004333.6. [BRAF variants in exon 6 →](https://dantelabs.com/genes/braf/variants?exon=6) [BRAF's gene diagram →](https://dantelabs.com/genes/braf#gene-structure) ## Molecular details | Gene | [BRAF](https://dantelabs.com/genes/braf) | | --------------------------- | ----------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_004333.6 MANE Select | | Coding DNA change (HGVS c.) | c.739T>G | | Protein change (HGVS p.) | p.Phe247Val p.F247V | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chr7:140801533 A>C | | Position (GRCh37) | chr7:140501333 A>C | | dbSNP ID | [rs397516903 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs397516903) | | ClinVar Variation ID | [VCV000044830 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/44830/) | | ClinVar Allele ID | 53997 | | ClinGen Allele Registry ID | [CA135140 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA135140) | | ClinVar name | NM_004333.6(BRAF):c.739T>G (p.Phe247Val) | ## BRAF F247V in other databases - [ClinVar VCV000044830 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/44830/) - [dbSNP rs397516903 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs397516903) - [ClinGen Allele Registry CA135140 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA135140) - [gnomAD 7-140801533-A-C (opens in a new tab)](https://gnomad.broadinstitute.org/variant/7-140801533-A-C?dataset=gnomad_r4) - [Ensembl rs397516903 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs397516903) ## Reports that look at this variant (2) These Genome Test condition reports include F247V among the variants they look at. | Report | Conditions | Inheritance | | ------------------------------------------------------------------------------------------- | -------------------------------------------- | ------------------ | | [Hypertrophic Cardiomyopathy](https://dantelabs.com/conditions/hypertrophic-cardiomyopathy) | Hypertrophic Cardiomyopathy | Autosomal dominant | | [Noonan Syndrome](https://dantelabs.com/conditions/noonan-syndrome) | Noonan Syndrome and Noonan-Related Syndromes | | ## Other variants in BRAF - [A246P Pathogenic 3 stars out of 4](https://dantelabs.com/genes/braf/variants/a246p) - [c.735A>T Pathogenic 3 stars out of 4](https://dantelabs.com/genes/braf/variants/c-735a-t) - [c.739T>C Pathogenic 3 stars out of 4](https://dantelabs.com/genes/braf/variants/c-739t-c) - [F247L Pathogenic 3 stars out of 4](https://dantelabs.com/genes/braf/variants/f247l) - [F247S Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/braf/variants/f247s) - [L245F Pathogenic 3 stars out of 4](https://dantelabs.com/genes/braf/variants/l245f) - [N581D Pathogenic 3 stars out of 4](https://dantelabs.com/genes/braf/variants/n581d) - [Q257R Pathogenic 3 stars out of 4](https://dantelabs.com/genes/braf/variants/q257r) - [T244P Pathogenic 3 stars out of 4](https://dantelabs.com/genes/braf/variants/t244p) [All BRAF variants](https://dantelabs.com/genes/braf/variants) ## Limitations This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant. Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports. Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements. If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor. ## Sources & credits - Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information. - Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0. - Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16). - Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54). - Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information. - Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16). - Difficult regions from the Genome in a Bottle Consortium (release v3.6). - Transcripts from MANE (release v1.5), NCBI and EMBL-EBI. - Predicted consequences from mehari (release 0.11.0), with transcript models from cdot. - Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026. ## Cite this page APA > Dante Labs. (16 October 2026). BRAF F247V (c.739T>G, rs397516903) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https\://dantelabs.com/genes/braf/variants/f247v Vancouver > Dante Labs. BRAF F247V (c.739T>G, rs397516903) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 16 October 2026]. Available from: https\://dantelabs.com/genes/braf/variants/f247v Download citation [RIS](https://dantelabs.com/genes/braf/variants/f247v/cite.ris) [BibTeX](https://dantelabs.com/genes/braf/variants/f247v/cite.bib) [CSL-JSON](https://dantelabs.com/genes/braf/variants/f247v/cite.json) ## Read your whole genome From $449 Free shipping · Results in 6–8 weeks [Explore the Genome Test](https://dantelabs.com/whole-genome-sequencing)