Variant
TP53 P27Lfs*17
NM_000546.6(TP53):c.80del (p.Pro27LeufsTer17)
- p.Pro27LeufsTer17
- p.P27Lfs*17
- rs1192416464
- ClinVar classification
- Pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 10 January 2025
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.19-9814e911Facts last changed 18 October 2026
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/genes/tp53/variants/p27lfs17.json"
page <- fromJSON(url)
page$variant$nameSummary
P27Lfs*17 is a frameshift variant in TP53: it adds or removes DNA letters in a way that shifts how the rest of the gene's code is read. ClinVar classifies it as pathogenic for Li-Fraumeni Syndrome (criteria provided, multiple submitters, no conflicts).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Li-Fraumeni SyndromeClinVar VCV001447671 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 10 January 2025 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
ACMG/AMP criteria
The ACMG/AMP criteria P27Lfs*17 meets, from its predicted effect in TP53, gnomAD and ClinVar.
| Criterion | Strength | Rests on |
|---|---|---|
| PVS1Null variant where loss of function causes disease | Very strong | frameshift_variant on NM_000546.6 |
| PM2Absent or very rare in population databases | Supporting | Not seen in gnomAD exomes, gnomAD genomes |
| PP5A reputable source reports it as pathogenic | Supporting | ClinVar: Pathogenic (criteria provided, multiple submitters, no conflicts) |
On these criteria alone: pathogenic.
Assessed automatically, without functional, computational or family evidence. Not a clinical classification.
Population frequency
How often P27Lfs*17 is seen among the people whose exomes and genomes gnomAD 4.1 brings together.
| Dataset | Allele frequency | Allele count | Homozygotes | Commonest in |
|---|---|---|---|---|
| gnomAD exomes | Not seen | 0 of 0 | 0 | |
| 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.
Where it lies in TP53
P27Lfs*17 lies in exon 3 of the 11 in TP53's MANE Select transcript, NM_000546.6.
Molecular details
| Gene | TP53 |
|---|---|
| Transcript | NM_000546.6MANE Select |
| Coding DNA change (HGVS c.) | c.80del |
| Protein change (HGVS p.) | p.Pro27LeufsTer17p.P27Lfs*17 |
| Predicted consequence | Frameshiftframeshift_variant (opens in a new tab)frameshift_truncation (opens in a new tab) |
| Predicted impact | High |
| Position (GRCh38) | chr17:7676397 AG>A |
| Position (GRCh37) | chr17:7579715 AG>A |
| dbSNP ID | rs1192416464 (opens in a new tab) |
| ClinVar Variation ID | VCV001447671 (opens in a new tab) |
| ClinVar Allele ID | 1403558 |
| ClinGen Allele Registry ID | CA497719374 (opens in a new tab) |
| ClinVar name | NM_000546.6(TP53):c.80del (p.Pro27fs) |
TP53 P27Lfs*17 in other databases
Reports that look at this variant (1)
These Genome Test condition reports include P27Lfs*17 among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Li-Fraumeni Syndrome | Li-Fraumeni Syndrome | Autosomal dominant |
Other variants in TP53
- A138PLikely pathogenic3 stars out of 4
- A138VLikely pathogenic3 stars out of 4
- A161_Y163delinsDLikely pathogenic3 stars out of 4
- A347DPathogenic3 stars out of 4
- c.-29+1G>TLikely pathogenic3 stars out of 4
- c.97-1G>APathogenic3 stars out of 4
- c.375+5G>ALikely pathogenic3 stars out of 4
- c.919+1G>APathogenic3 stars out of 4
- c.993+1delLikely pathogenic3 stars out of 4
- C124XPathogenic3 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 2026-10-19-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
Dante Labs. (18 October 2026). TP53 P27Lfs*17 (c.80del, rs1192416464) (Version 2026.10.19-9814e911). Retrieved 20 October 2026, from https://dantelabs.com/genes/tp53/variants/p27lfs17
Dante Labs. TP53 P27Lfs*17 (c.80del, rs1192416464) [Internet]. Version 2026.10.19-9814e911. 18 October 2026 [cited 20 October 2026]. Available from: https://dantelabs.com/genes/tp53/variants/p27lfs17
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