--- title: "TP53 C238F (c.713G>T, rs730882005) | Dante Labs" description: "ClinVar classifies TP53 C238F as Pathogenic/likely pathogenic (criteria provided, multiple submitters, no conflicts). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/tp53/variants/c238f" --- 1. [Genes](https://dantelabs.com/genes) 2. [TP53](https://dantelabs.com/genes/tp53) 3. TP53 C238F Variant # TP53 C238F NM_000546.6(TP53):c.713G>T (p.Cys238Phe) Also known as - p.Cys238Phe - p.C238F - rs730882005 * ClinVar classification Pathogenic/likely pathogenic * Review status 2 stars out of 4 criteria provided, multiple submitters, no conflicts * Last evaluated 4 June 2024 Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.19-9814e911 Facts last changed 18 October 2026 ## Summary C238F is a missense variant in TP53: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic or likely pathogenic for Li-Fraumeni Syndrome (criteria provided, multiple submitters, no conflicts). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | --------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | ---------------------------- | --------------------------------------------------------------------- | ------------- | -------------- | | [Li-Fraumeni Syndrome](https://dantelabs.com/conditions/li-fraumeni-syndrome) [ClinVar VCV000376574 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/376574/) | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | 2 submissions | 4 June 2024 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## ACMG/AMP criteria The ACMG/AMP criteria C238F meets, from its predicted effect in TP53, gnomAD and ClinVar. | Criterion | Strength | Rests on | | ----------------------------------------------- | ---------- | -------------------------------------------------------------------------------------------- | | PP5 A reputable source reports it as pathogenic | Supporting | ClinVar: Pathogenic/likely pathogenic (criteria provided, multiple submitters, no conflicts) | On these criteria alone: uncertain significance. Assessed automatically, without functional, computational or family evidence. Not a clinical classification. ## Population frequency How often C238F is seen among the people whose exomes and genomes gnomAD 4.1 brings together. | Dataset | Allele frequency | Allele count | Homozygotes | Commonest in | | -------------- | ------------------------ | -------------- | ----------- | -------------------------------- | | gnomAD exomes | 0.000068% 1 in 1,461,694 | 1 of 1,461,694 | 0 | European (non-Finnish): 0.00009% | | gnomAD genomes | Not seen | 0 of 0 | 0 | | Figures from gnomAD 4.1, as gnomAD publishes them. Groups are genetic ancestry groups as gnomAD infers them. They describe the variant in gnomAD's populations, not anyone's result. [C238F in the gnomAD browser (opens in a new tab)](https://gnomad.broadinstitute.org/variant/17-7674250-C-A?dataset=gnomad_r4) ## Where it lies in TP53 C238F lies in exon 7 of the 11 in TP53's MANE Select transcript, NM_000546.6. [TP53 variants in exon 7 →](https://dantelabs.com/genes/tp53/variants?exon=7) [TP53's gene diagram →](https://dantelabs.com/genes/tp53#gene-structure) ## Molecular details | Gene | [TP53](https://dantelabs.com/genes/tp53) | | --------------------------- | --------------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_000546.6 MANE Select | | Coding DNA change (HGVS c.) | c.713G>T | | Protein change (HGVS p.) | p.Cys238Phe p.C238F | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chr17:7674250 C>A | | Position (GRCh37) | chr17:7577568 C>A | | dbSNP ID | [rs730882005 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs730882005) | | ClinVar Variation ID | [VCV000376574 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/376574/) | | ClinVar Allele ID | 363453 | | ClinGen Allele Registry ID | [CA16603000 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA16603000) | | ClinVar name | NM_000546.6(TP53):c.713G>T (p.Cys238Phe) | ## TP53 C238F in other databases - [ClinVar VCV000376574 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/376574/) - [dbSNP rs730882005 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs730882005) - [ClinGen Allele Registry CA16603000 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA16603000) - [gnomAD 17-7674250-C-A (opens in a new tab)](https://gnomad.broadinstitute.org/variant/17-7674250-C-A?dataset=gnomad_r4) - [Ensembl rs730882005 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs730882005) ## Reports that look at this variant (1) These Genome Test condition reports include C238F among the variants they look at. | Report | Conditions | Inheritance | | ----------------------------------------------------------------------------- | -------------------- | ------------------ | | [Li-Fraumeni Syndrome](https://dantelabs.com/conditions/li-fraumeni-syndrome) | Li-Fraumeni Syndrome | Autosomal dominant | ## Other variants in TP53 - [A138P Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/tp53/variants/a138p) - [A138V Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/tp53/variants/a138v) - [A161_Y163delinsD Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/tp53/variants/a161-y163delinsd) - [A347D Pathogenic 3 stars out of 4](https://dantelabs.com/genes/tp53/variants/a347d) - [c.-29+1G>T Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/tp53/variants/c--29plus1g-t) - [c.97-1G>A Pathogenic 3 stars out of 4](https://dantelabs.com/genes/tp53/variants/c-97-1g-a) - [c.375+5G>A Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/tp53/variants/c-375plus5g-a) - [c.919+1G>A Pathogenic 3 stars out of 4](https://dantelabs.com/genes/tp53/variants/c-919plus1g-a) - [c.993+1del Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/tp53/variants/c-993plus1del) - [C124X Pathogenic 3 stars out of 4](https://dantelabs.com/genes/tp53/variants/c124x) [All TP53 variants](https://dantelabs.com/genes/tp53/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 2026-10-19-c4908f54). - Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information. - Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-19). - 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 2026.10.19-9814e911 of 19 October 2026. ## Cite this page APA > Dante Labs. (18 October 2026). TP53 C238F (c.713G>T, rs730882005) (Version 2026.10.19-9814e911). Retrieved 19 October 2026, from https\://dantelabs.com/genes/tp53/variants/c238f Vancouver > Dante Labs. TP53 C238F (c.713G>T, rs730882005) \[Internet]. Version 2026.10.19-9814e911. 18 October 2026 \[cited 19 October 2026]. Available from: https\://dantelabs.com/genes/tp53/variants/c238f Download citation [RIS](https://dantelabs.com/genes/tp53/variants/c238f/cite.ris) [BibTeX](https://dantelabs.com/genes/tp53/variants/c238f/cite.bib) [CSL-JSON](https://dantelabs.com/genes/tp53/variants/c238f/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)