Variant
BRAF F247L
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu)
- p.F247L
- p.Phe247Leu
- rs397509343
- ClinVar classification
- Pathogenic
- Review status
- 3 stars out of 4reviewed 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-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
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Summary
F247L is a missense variant in BRAF: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as 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 SyndromesClinVar VCV000055793 (opens in a new tab) | Pathogenic | 3 stars out of 4reviewed 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
F247L lies in exon 6 of the 18 in BRAF's MANE Select transcript, NM_004333.6.
Molecular details
| Gene | BRAF |
|---|---|
| Transcript | NM_004333.6MANE Select |
| Coding DNA change (HGVS c.) | c.741T>G |
| Protein change (HGVS p.) | p.Phe247Leup.F247L |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr7:140801531 A>C |
| Position (GRCh37) | chr7:140501331 A>C |
| dbSNP ID | rs397509343 (opens in a new tab) |
| ClinVar Variation ID | VCV000055793 (opens in a new tab) |
| ClinVar Allele ID | 70449 |
| ClinGen Allele Registry ID | CA284654 (opens in a new tab) |
| ClinVar name | NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) |
| Other names | p.F247L |
BRAF F247L in other databases
Reports that look at this variant (2)
These Genome Test condition reports include F247L among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Hypertrophic Cardiomyopathy | Hypertrophic Cardiomyopathy | Autosomal dominant |
| Noonan Syndrome | Noonan Syndrome and Noonan-Related Syndromes |
Other variants in BRAF
- A246PPathogenic3 stars out of 4
- c.735A>TPathogenic3 stars out of 4
- c.739T>CPathogenic3 stars out of 4
- F247SLikely pathogenic3 stars out of 4
- F247VLikely pathogenic3 stars out of 4
- L245FPathogenic3 stars out of 4
- N581DPathogenic3 stars out of 4
- Q257RPathogenic3 stars out of 4
- T244PPathogenic3 stars out of 4
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
Dante Labs. (16 October 2026). BRAF F247L (c.741T>G, rs397509343) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/braf/variants/f247l
Dante Labs. BRAF F247L (c.741T>G, rs397509343) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/braf/variants/f247l
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