NM_000546.6(TP53):c.358A>T (p.Lys120Ter) AND Li-fraumeni-like syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1995
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000013158.22

Allele description [Variation Report for NM_000546.6(TP53):c.358A>T (p.Lys120Ter)]

NM_000546.6(TP53):c.358A>T (p.Lys120Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.358A>T (p.Lys120Ter)

HGVS:

NC_000017.11:g.7676011T>A
NG_017013.2:g.16540A>T
NM_000546.6:c.358A>TMANE SELECT
NM_001126112.3:c.358A>T
NM_001126113.3:c.358A>T
NM_001126114.3:c.358A>T
NM_001126118.2:c.241A>T
NM_001276695.3:c.241A>T
NM_001276696.3:c.241A>T
NM_001276760.3:c.241A>T
NM_001276761.3:c.241A>T
NP_000537.3:p.Lys120Ter
NP_001119584.1:p.Lys120Ter
NP_001119585.1:p.Lys120Ter
NP_001119586.1:p.Lys120Ter
NP_001119590.1:p.Lys81Ter
NP_001263624.1:p.Lys81Ter
NP_001263625.1:p.Lys81Ter
NP_001263689.1:p.Lys81Ter
NP_001263690.1:p.Lys81Ter
LRG_321:g.16540A>T
NC_000017.10:g.7579329T>A

Protein change:

K120*; LYS120TER

Links:

OMIM: 191170.0017; dbSNP: rs121912658

NCBI 1000 Genomes Browser:

rs121912658

Molecular consequence:

NM_000546.6:c.358A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001126112.3:c.358A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001126113.3:c.358A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001126114.3:c.358A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001126118.2:c.241A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001276695.3:c.241A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001276696.3:c.241A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001276760.3:c.241A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001276761.3:c.241A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Li-fraumeni-like syndrome
Identifiers:: MONDO: MONDO:0800290; MedGen: C2675080

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033405	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1995)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 1565143, 8718514

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033405

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1995)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.

Toguchida J, Yamaguchi T, Dayton SH, Beauchamp RL, Herrera GE, Ishizaki K, Yamamuro T, Meyers PA, Little JB, Sasaki MS, et al.

N Engl J Med. 1992 May 14;326(20):1301-8.

PubMed [citation]

PMID:: 1565143

Germline mutations in the TP53 gene.

Eeles RA.

Cancer Surv. 1995;25:101-24. Review.

PubMed [citation]

PMID:: 8718514

Details of each submission

From OMIM, SCV000033405.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Toguchida et al. (1992) identified an AAG-to-TAG change of codon 120 of the p53 gene, resulting in conversion of lysine to a stop codon (K120X). The patient had an osteosarcoma and adenocarcinoma of the lung at age 18 years, and brain tumor at the age of 27 years. The patient's mother had breast cancer at age 25 years. Eeles (1995) classified this family as having Li-Fraumeni-like syndrome (see 151623).

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

Last Updated: Dec 17, 2022

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