NM_000546.6(TP53):c.1023C>G (p.Phe341Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 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:: RCV003341665.2

Allele description [Variation Report for NM_000546.6(TP53):c.1023C>G (p.Phe341Leu)]

NM_000546.6(TP53):c.1023C>G (p.Phe341Leu)

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.1023C>G (p.Phe341Leu)

HGVS:

NC_000017.11:g.7670686G>C
NG_017013.2:g.21865C>G
NM_000546.6:c.1023C>GMANE SELECT
NM_001126112.3:c.1023C>G
NM_001126113.3:c.*42C>G
NM_001126114.3:c.*130C>G
NM_001126115.2:c.627C>G
NM_001126116.2:c.*130C>G
NM_001126117.2:c.*42C>G
NM_001126118.2:c.906C>G
NM_001276695.3:c.*42C>G
NM_001276696.3:c.*130C>G
NM_001276697.3:c.546C>G
NM_001276698.3:c.*130C>G
NM_001276699.3:c.*42C>G
NM_001276760.3:c.906C>G
NM_001276761.3:c.906C>G
NM_001407262.1:c.1023C>G
NM_001407263.1:c.906C>G
NM_001407264.1:c.1023C>G
NM_001407265.1:c.906C>G
NM_001407266.1:c.1023C>G
NM_001407267.1:c.906C>G
NM_001407268.1:c.*130C>G
NM_001407269.1:c.*130C>G
NM_001407270.1:c.*130C>G
NM_001407271.1:c.*130C>G
NP_000537.3:p.Phe341Leu
NP_000537.3:p.Phe341Leu
NP_001119584.1:p.Phe341Leu
NP_001119584.1:p.Phe341Leu
NP_001119587.1:p.Phe209Leu
NP_001119587.1:p.Phe209Leu
NP_001119590.1:p.Phe302Leu
NP_001119590.1:p.Phe302Leu
NP_001263626.1:p.Phe182Leu
NP_001263689.1:p.Phe302Leu
NP_001263690.1:p.Phe302Leu
NP_001394191.1:p.Phe341Leu
NP_001394192.1:p.Phe302Leu
NP_001394193.1:p.Phe341Leu
NP_001394194.1:p.Phe302Leu
NP_001394195.1:p.Phe341Leu
NP_001394196.1:p.Phe302Leu
LRG_321t1:c.1023C>G
LRG_321t2:c.1023C>G
LRG_321t3:c.*130C>G
LRG_321t4:c.*42C>G
LRG_321t5:c.627C>G
LRG_321t6:c.*130C>G
LRG_321t7:c.*42C>G
LRG_321t8:c.906C>G
LRG_321:g.21865C>G
LRG_321:p.Phe341Leu
LRG_321p1:p.Phe341Leu
LRG_321p5:p.Phe209Leu
LRG_321p8:p.Phe302Leu
NC_000017.10:g.7574004G>C
NM_000546.4:c.1023C>G
NM_000546.5:c.1023C>G
NM_001126112.2:c.1023C>G
NM_001126113.2:c.*42C>G
NM_001126114.2:c.*130C>G
NM_001126115.1:c.627C>G
NM_001126116.1:c.*130C>G
NM_001126117.1:c.*42C>G
NM_001126118.1:c.906C>G
NR_176326.1:n.1052C>G

Protein change:

F182L

Molecular consequence:

NM_001126113.3:c.*42C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001126114.3:c.*130C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001126116.2:c.*130C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001126117.2:c.*42C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276695.3:c.*42C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276696.3:c.*130C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276698.3:c.*130C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276699.3:c.*42C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407268.1:c.*130C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407269.1:c.*130C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407270.1:c.*130C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407271.1:c.*130C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000546.6:c.1023C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.1023C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.627C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.906C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.546C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.906C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.906C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407262.1:c.1023C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407263.1:c.906C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407264.1:c.1023C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407265.1:c.906C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407266.1:c.1023C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407267.1:c.906C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_176326.1:n.1052C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004058528	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Jun 26, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 12826609, 16007150, 30224644 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004058528

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Jun 26, 2023)

germline

clinical testing

PubMed (3)
[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	germline	unknown	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

The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library.

Kawaguchi T, Kato S, Otsuka K, Watanabe G, Kumabe T, Tominaga T, Yoshimoto T, Ishioka C.

Oncogene. 2005 Oct 20;24(46):6976-81.

PubMed [citation]

PMID:: 16007150

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV004058528.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 1, 2024

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