NM_000546.6(TP53):c.480G>A (p.Met160Ile) AND Li-Fraumeni syndrome 1

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 26, 2023
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:: RCV005361280.1

Allele description [Variation Report for NM_000546.6(TP53):c.480G>A (p.Met160Ile)]

NM_000546.6(TP53):c.480G>A (p.Met160Ile)

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.480G>A (p.Met160Ile)

Other names:

NM_000546.5(TP53):c.480G>A

HGVS:

NC_000017.11:g.7675132C>T
NG_017013.2:g.17419G>A
NM_000546.6:c.480G>AMANE SELECT
NM_001126112.3:c.480G>A
NM_001126113.3:c.480G>A
NM_001126114.3:c.480G>A
NM_001126115.2:c.84G>A
NM_001126116.2:c.84G>A
NM_001126117.2:c.84G>A
NM_001126118.2:c.363G>A
NM_001276695.3:c.363G>A
NM_001276696.3:c.363G>A
NM_001276697.3:c.3G>A
NM_001276698.3:c.3G>A
NM_001276699.3:c.3G>A
NM_001276760.3:c.363G>A
NM_001276761.3:c.363G>A
NP_000537.3:p.Met160Ile
NP_000537.3:p.Met160Ile
NP_001119584.1:p.Met160Ile
NP_001119585.1:p.Met160Ile
NP_001119586.1:p.Met160Ile
NP_001119587.1:p.Met28Ile
NP_001119588.1:p.Met28Ile
NP_001119589.1:p.Met28Ile
NP_001119590.1:p.Met121Ile
NP_001263624.1:p.Met121Ile
NP_001263625.1:p.Met121Ile
NP_001263626.1:p.Met1Ile
NP_001263627.1:p.Met1Ile
NP_001263628.1:p.Met1Ile
NP_001263689.1:p.Met121Ile
NP_001263690.1:p.Met121Ile
LRG_321t1:c.480G>A
LRG_321:g.17419G>A
LRG_321p1:p.Met160Ile
NC_000017.10:g.7578450C>T
NM_000546.4:c.480G>A
NM_000546.5:c.480G>A
P04637:p.Met160Ile

Protein change:

M121I

Links:

UniProtKB: P04637#VAR_005908; dbSNP: rs772354334

Molecular consequence:

NM_001276697.3:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001276698.3:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001276699.3:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_000546.6:c.480G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.480G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.480G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.480G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.84G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.84G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.84G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.363G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV005918329	Department of Pathology and Laboratory Medicine, Sinai Health System	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Sep 26, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 12826609, 29979965, 29785153, 31159747, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005918329

Department of Pathology and Laboratory Medicine, Sinai Health System

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Sep 26, 2023)

germline

clinical testing

PubMed (5)
[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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.

Kato S, Han SY, Liu W, Otsuka K, Shibata H, Kanamaru R, Ishioka C.

Proc Natl Acad Sci U S A. 2003 Jul 8;100(14):8424-9. Epub 2003 Jun 25.

PubMed [citation]

PMID:: 12826609
PMCID:: PMC166245

A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation.

Kotler E, Shani O, Goldfeld G, Lotan-Pompan M, Tarcic O, Gershoni A, Hopf TA, Marks DS, Oren M, Segal E.

Mol Cell. 2018 Jul 5;71(1):178-190.e8. doi: 10.1016/j.molcel.2018.06.012. Erratum in: Mol Cell. 2018 Sep 6;71(5):873. doi: 10.1016/j.molcel.2018.08.013..

PubMed [citation]

PMID:: 29979965

See all PubMed Citations (5)

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System, SCV005918329.1

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

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

Last Updated: Apr 12, 2026

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