NM_000546.6(TP53):c.529_546del (p.Pro177_Cys182del) AND Li-Fraumeni syndrome 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 14, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV004031305.1

Allele description [Variation Report for NM_000546.6(TP53):c.529_546del (p.Pro177_Cys182del)]

NM_000546.6(TP53):c.529_546del (p.Pro177_Cys182del)

Gene:

TP53:tumor protein p53 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.529_546del (p.Pro177_Cys182del)

HGVS:

NC_000017.11:g.7675073_7675090del
NG_017013.2:g.17468_17485del
NM_000546.4:c.529_546delCCCCACCATGAGCGCTGC
NM_000546.6:c.529_546delMANE SELECT
NM_001126112.3:c.529_546del
NM_001126113.3:c.529_546del
NM_001126114.3:c.529_546del
NM_001126115.2:c.133_150del
NM_001126116.2:c.133_150del
NM_001126117.2:c.133_150del
NM_001126118.2:c.412_429del
NM_001276695.3:c.412_429del
NM_001276696.3:c.412_429del
NM_001276697.3:c.52_69del
NM_001276698.3:c.52_69del
NM_001276699.3:c.52_69del
NM_001276760.3:c.412_429del
NM_001276761.3:c.412_429del
NP_000537.3:p.Pro177_Cys182del
NP_001119584.1:p.Pro177_Cys182del
NP_001119585.1:p.Pro177_Cys182del
NP_001119586.1:p.Pro177_Cys182del
NP_001119587.1:p.Pro45_Cys50del
NP_001119588.1:p.Pro45_Cys50del
NP_001119589.1:p.Pro45_Cys50del
NP_001119590.1:p.Pro138_Cys143del
NP_001263624.1:p.Pro138_Cys143del
NP_001263625.1:p.Pro138_Cys143del
NP_001263626.1:p.Pro18_Cys23del
NP_001263627.1:p.Pro18_Cys23del
NP_001263628.1:p.Pro18_Cys23del
NP_001263689.1:p.Pro138_Cys143del
NP_001263690.1:p.Pro138_Cys143del
LRG_321t1:c.529_546del
LRG_321:g.17468_17485del
NC_000017.10:g.7578384_7578401del
NC_000017.10:g.7578391_7578408del
NM_000546.5:c.529_546del
NM_000546.6:c.529_546del

Links:

dbSNP: rs2073361326

Molecular consequence:

NM_000546.6:c.529_546del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126112.3:c.529_546del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126113.3:c.529_546del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126114.3:c.529_546del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126115.2:c.133_150del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126116.2:c.133_150del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126117.2:c.133_150del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126118.2:c.412_429del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276695.3:c.412_429del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276696.3:c.412_429del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276697.3:c.52_69del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276698.3:c.52_69del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276699.3:c.52_69del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276760.3:c.412_429del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276761.3:c.412_429del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Li-Fraumeni syndrome 1 (LFS)
Identifiers:: Gene: 553989; MedGen: C1835398; Orphanet: 524; OMIM: 151623

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004933252	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Likely pathogenic (Feb 14, 2024)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 8336941, 12509279, 17530187, 16633321, 21590121 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004933252

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Likely pathogenic
(Feb 14, 2024)

unknown

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Heterogeneity of transcriptional activity of mutant p53 proteins and p53 DNA target sequences.

Chen JY, Funk WD, Wright WE, Shay JW, Minna JD.

Oncogene. 1993 Aug;8(8):2159-66.

PubMed [citation]

PMID:: 8336941

A novel p53 mutant retained functional activity in lung carcinomas.

Ko JL, Chiao MC, Chang SL, Lin P, Lin JC, Sheu GT, Lee H.

DNA Repair (Amst). 2002 Sep 4;1(9):755-62.

PubMed [citation]

PMID:: 12509279

See all PubMed Citations (5)

Details of each submission

From Myriad Genetics, Inc., SCV004933252.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

This variant is considered likely pathogenic. This variant is expected to disrupt protein structure [Myriad internal data]. Functional studies indicate this variant impacts protein function [PMID: 8336941, 12509279, 17530187]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 16633321, 21590121].

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 12, 2026

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