NM_000546.6(TP53):c.758C>A (p.Thr253Asn) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 26, 2017
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:: RCV000601887.5

Allele description [Variation Report for NM_000546.6(TP53):c.758C>A (p.Thr253Asn)]

NM_000546.6(TP53):c.758C>A (p.Thr253Asn)

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.758C>A (p.Thr253Asn)

HGVS:

NC_000017.11:g.7674205G>T
NG_017013.2:g.18346C>A
NM_000546.6:c.758C>AMANE SELECT
NM_001126112.3:c.758C>A
NM_001126113.3:c.758C>A
NM_001126114.3:c.758C>A
NM_001126115.2:c.362C>A
NM_001126116.2:c.362C>A
NM_001126117.2:c.362C>A
NM_001126118.2:c.641C>A
NM_001276695.3:c.641C>A
NM_001276696.3:c.641C>A
NM_001276697.3:c.281C>A
NM_001276698.3:c.281C>A
NM_001276699.3:c.281C>A
NM_001276760.3:c.641C>A
NM_001276761.3:c.641C>A
NP_000537.3:p.Thr253Asn
NP_000537.3:p.Thr253Asn
NP_001119584.1:p.Thr253Asn
NP_001119585.1:p.Thr253Asn
NP_001119586.1:p.Thr253Asn
NP_001119587.1:p.Thr121Asn
NP_001119588.1:p.Thr121Asn
NP_001119589.1:p.Thr121Asn
NP_001119590.1:p.Thr214Asn
NP_001263624.1:p.Thr214Asn
NP_001263625.1:p.Thr214Asn
NP_001263626.1:p.Thr94Asn
NP_001263627.1:p.Thr94Asn
NP_001263628.1:p.Thr94Asn
NP_001263689.1:p.Thr214Asn
NP_001263690.1:p.Thr214Asn
LRG_321t1:c.758C>A
LRG_321:g.18346C>A
LRG_321p1:p.Thr253Asn
NC_000017.10:g.7577523G>T
NM_000546.5:c.758C>A

Protein change:

T121N

Links:

dbSNP: rs1555525465

NCBI 1000 Genomes Browser:

rs1555525465

Molecular consequence:

NM_000546.6:c.758C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.758C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.758C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.758C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.362C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.362C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.362C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.641C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.641C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.641C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.281C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.281C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.281C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.641C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.641C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000712879	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Feb 26, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000712879

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Feb 26, 2017)

germline

clinical testing

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	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000712879.2

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

Description

The p.Thr253Asn variant in TP53 has not been previously reported as a germline v ariant in individuals with Li-Fraumeni syndrome or in large population studies. Computational prediction tools and conservation analysis do not provide strong s upport for or against an impact to the protein. In summary, the clinical signifi cance of the p.Thr253Asn variant is uncertain.

#	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		1	not provided	1	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine