NM_000546.6(TP53):c.451C>A (p.Pro151Thr) AND Breast adenocarcinoma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 1993
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:: RCV000013168.8

Allele description [Variation Report for NM_000546.6(TP53):c.451C>A (p.Pro151Thr)]

NM_000546.6(TP53):c.451C>A (p.Pro151Thr)

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.451C>A (p.Pro151Thr)

HGVS:

NC_000017.11:g.7675161G>T
NG_017013.2:g.17390C>A
NM_000546.6:c.451C>AMANE SELECT
NM_001126112.3:c.451C>A
NM_001126113.3:c.451C>A
NM_001126114.3:c.451C>A
NM_001126115.2:c.55C>A
NM_001126116.2:c.55C>A
NM_001126117.2:c.55C>A
NM_001126118.2:c.334C>A
NM_001276695.3:c.334C>A
NM_001276696.3:c.334C>A
NM_001276697.3:c.-27C>A
NM_001276698.3:c.-27C>A
NM_001276699.3:c.-27C>A
NM_001276760.3:c.334C>A
NM_001276761.3:c.334C>A
NP_000537.3:p.Pro151Thr
NP_000537.3:p.Pro151Thr
NP_001119584.1:p.Pro151Thr
NP_001119585.1:p.Pro151Thr
NP_001119586.1:p.Pro151Thr
NP_001119587.1:p.Pro19Thr
NP_001119588.1:p.Pro19Thr
NP_001119589.1:p.Pro19Thr
NP_001119590.1:p.Pro112Thr
NP_001263624.1:p.Pro112Thr
NP_001263625.1:p.Pro112Thr
NP_001263689.1:p.Pro112Thr
NP_001263690.1:p.Pro112Thr
LRG_321t1:c.451C>A
LRG_321:g.17390C>A
LRG_321p1:p.Pro151Thr
NC_000017.10:g.7578479G>T
NM_000546.4:c.451C>A
NM_000546.5:c.451C>A
P04637:p.Pro151Thr
p.P151T

Protein change:

P112T; PRO151THR

Links:

UniProtKB: P04637#VAR_005896; OMIM: 191170.0025; dbSNP: rs28934874

Molecular consequence:

NM_001276697.3:c.-27C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276698.3:c.-27C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276699.3:c.-27C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000546.6:c.451C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.451C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.451C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.451C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.55C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.55C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.55C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.334C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.334C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.334C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.334C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.334C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Breast adenocarcinoma
Synonyms:: Breast cancer, somatic; Breast adenocarcinoma, somatic
Identifiers:: MONDO: MONDO:0004988; MedGen: C0858252

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033415	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 1993)	somatic	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033415

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 1993)

somatic

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

A new mutation of exon 5 of the P53 gene in breast cancer.

Carrere N, Leblanc RM, Begueret J, Blouin P, Cheyrou A.

Hum Mol Genet. 1993 Jul;2(7):1075. No abstract available.

PubMed [citation]

PMID:: 8364550

Details of each submission

From OMIM, SCV000033415.1

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

Description

In a breast cancer (114480), Carrere et al. (1993) identified a CCC-to-ACC transversion in codon 151 of the p53 gene, resulting in a substitution of proline by threonine (P151T).

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

Last Updated: Apr 12, 2026

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