--- title: "TP53 H178D (c.532C>G, rs1064795203) | Dante Labs" description: "ClinVar classifies TP53 H178D as 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/tp53/variants/h178d" --- 1. [Genes](https://dantelabs.com/genes) 2. [TP53](https://dantelabs.com/genes/tp53) 3. TP53 H178D Variant # TP53 H178D NM_000546.6(TP53):c.532C>G (p.His178Asp) Also known as - p.His178Asp - p.H178D - rs1064795203 * ClinVar classification Pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 5 August 2024 * Expert panel ClinGen TP53 Variant Curation Expert Panel, ClinGen Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.19-9814e911 Facts last changed 18 October 2026 ## Summary H178D is a missense variant in TP53: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for Li-Fraumeni Syndrome (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | --------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | -------------- | ----------------------------------------- | ------------ | -------------- | | [Li-Fraumeni Syndrome](https://dantelabs.com/conditions/li-fraumeni-syndrome) [ClinVar VCV000482223 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/482223/) | Pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 5 August 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 H178D 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 (reviewed by expert panel) | On these criteria alone: uncertain significance. Assessed automatically, without functional, computational or family evidence. Not a clinical classification. ## Population frequency How often H178D 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 1,461,886 | 1 of 1,461,886 | 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. [H178D in the gnomAD browser (opens in a new tab)](https://gnomad.broadinstitute.org/variant/17-7675080-G-C?dataset=gnomad_r4) ## Where it lies in TP53 H178D lies in exon 5 of the 11 in TP53's MANE Select transcript, NM_000546.6. [TP53 variants in exon 5 →](https://dantelabs.com/genes/tp53/variants?exon=5) [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.532C>G | | Protein change (HGVS p.) | p.His178Asp p.H178D | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chr17:7675080 G>C | | Position (GRCh37) | chr17:7578398 G>C | | dbSNP ID | [rs1064795203 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs1064795203) | | ClinVar Variation ID | [VCV000482223 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/482223/) | | ClinVar Allele ID | 480057 | | ClinGen Allele Registry ID | [CA397841387 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA397841387) | | ClinVar name | NM_000546.6(TP53):c.532C>G (p.His178Asp) | ## TP53 H178D in other databases - [ClinVar VCV000482223 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/482223/) - [dbSNP rs1064795203 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs1064795203) - [ClinGen Allele Registry CA397841387 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA397841387) - [gnomAD 17-7675080-G-C (opens in a new tab)](https://gnomad.broadinstitute.org/variant/17-7675080-G-C?dataset=gnomad_r4) - [Ensembl rs1064795203 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs1064795203) ## Reports that look at this variant (1) These Genome Test condition reports include H178D 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 H178D (c.532C>G, rs1064795203) (Version 2026.10.19-9814e911). Retrieved 20 October 2026, from https\://dantelabs.com/genes/tp53/variants/h178d Vancouver > Dante Labs. TP53 H178D (c.532C>G, rs1064795203) \[Internet]. Version 2026.10.19-9814e911. 18 October 2026 \[cited 20 October 2026]. Available from: https\://dantelabs.com/genes/tp53/variants/h178d Download citation [RIS](https://dantelabs.com/genes/tp53/variants/h178d/cite.ris) [BibTeX](https://dantelabs.com/genes/tp53/variants/h178d/cite.bib) [CSL-JSON](https://dantelabs.com/genes/tp53/variants/h178d/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)