TP53 R342Efs*3 (c.1024del, rs1131691022)

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Variant

TP53 R342Efs*3

NM_000546.6(TP53):c.1024del (p.Arg342GlufsTer3)

Also known as

p.Arg342GlufsTer3
p.R342Efs*3
rs1131691022

ClinVar classification: Pathogenic/likely pathogenic
Review status: 2 stars out of 4criteria provided, multiple submitters, no conflicts
Last evaluated: 19 December 2025

Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.19-9814e911Facts last changed 19 October 2026

This page as data

Add .json to the page's address, or ask for application/json, to read it as JSON.

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Summary

R342Efs*3 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 or likely pathogenic for Li-Fraumeni Syndrome (criteria provided, multiple submitters, no conflicts).

ClinVar classifications

Condition	Classification	Review status	Submissions	Last evaluated
Li-Fraumeni SyndromeClinVar VCV000428885 (opens in a new tab)	Pathogenic/likely pathogenic	2 stars out of 4criteria provided, multiple submitters, no conflicts	2 submissions	19 December 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 R342Efs*3 meets, from its predicted effect in TP53, gnomAD and ClinVar.

Criterion	Strength	Points	Rests on
PVS1Null variant where loss of function causes disease	Very strong	+8	frameshift_variant on NM_000546.6Expected to cause nonsense-mediated decayWhether loss of function causes disease in this gene was not checked
PM2Absent or very rare in population databases	Supporting	+1	Not seen in gnomAD exomes, gnomAD genomes
PP5A reputable source reports it as pathogenic	Supporting	Not counted	ClinVar: Pathogenic/likely pathogenic (criteria provided, multiple submitters, no conflicts)

On these criteria alone: +9 points, likely pathogenic.

Assessed automatically, without functional, computational or family evidence. Not a clinical classification.

Population frequency

How often R342Efs*3 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.

R342Efs*3 in the gnomAD browser (opens in a new tab)

Where it lies in TP53

R342Efs*3 lies in exon 10 of the 11 in TP53's MANE Select transcript, NM_000546.6.

TP53 variants in exon 10 →TP53's gene diagram →

Molecular details

Gene	TP53
Transcript	NM_000546.6MANE Select
Coding DNA change (HGVS c.)	c.1024del
Protein change (HGVS p.)	p.Arg342GlufsTer3p.R342Efs*3
Predicted consequence	Frameshiftframeshift_variant (opens in a new tab)frameshift_truncation (opens in a new tab)
Predicted impact	High
Position (GRCh38)	chr17:7670684 CG>C
Position (GRCh37)	chr17:7574002 CG>C
dbSNP ID	rs1131691022 (opens in a new tab)
ClinVar Variation ID	VCV000428885 (opens in a new tab)
ClinVar Allele ID	420634
ClinGen Allele Registry ID	CA497712605 (opens in a new tab)
ClinVar name	NM_000546.6(TP53):c.1024del (p.Arg342fs)

TP53 R342Efs*3 in other databases

Reports that look at this variant (1)

These Genome Test condition reports include R342Efs*3 among the variants they look at.

Report	Conditions	Inheritance
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	Autosomal dominant

All 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. (19 October 2026). TP53 R342Efs*3 (c.1024del, rs1131691022) (Version 2026.10.19-9814e911). Retrieved 20 October 2026, from https://dantelabs.com/genes/tp53/variants/r342efs3

Vancouver

Dante Labs. TP53 R342Efs*3 (c.1024del, rs1131691022) [Internet]. Version 2026.10.19-9814e911. 19 October 2026 [cited 20 October 2026]. Available from: https://dantelabs.com/genes/tp53/variants/r342efs3

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