NM_000546.6(TP53):c.766A>G (p.Thr256Ala) AND Li-Fraumeni syndrome 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 30, 2014
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:: RCV000172827.3

Allele description [Variation Report for NM_000546.6(TP53):c.766A>G (p.Thr256Ala)]

NM_000546.6(TP53):c.766A>G (p.Thr256Ala)

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.766A>G (p.Thr256Ala)

HGVS:

NC_000017.11:g.7674197T>C
NG_017013.2:g.18354A>G
NM_000546.6:c.766A>GMANE SELECT
NM_001126112.3:c.766A>G
NM_001126113.3:c.766A>G
NM_001126114.3:c.766A>G
NM_001126115.2:c.370A>G
NM_001126116.2:c.370A>G
NM_001126117.2:c.370A>G
NM_001126118.2:c.649A>G
NM_001276695.3:c.649A>G
NM_001276696.3:c.649A>G
NM_001276697.3:c.289A>G
NM_001276698.3:c.289A>G
NM_001276699.3:c.289A>G
NM_001276760.3:c.649A>G
NM_001276761.3:c.649A>G
NP_000537.3:p.Thr256Ala
NP_000537.3:p.Thr256Ala
NP_001119584.1:p.Thr256Ala
NP_001119585.1:p.Thr256Ala
NP_001119586.1:p.Thr256Ala
NP_001119587.1:p.Thr124Ala
NP_001119588.1:p.Thr124Ala
NP_001119589.1:p.Thr124Ala
NP_001119590.1:p.Thr217Ala
NP_001263624.1:p.Thr217Ala
NP_001263625.1:p.Thr217Ala
NP_001263626.1:p.Thr97Ala
NP_001263627.1:p.Thr97Ala
NP_001263628.1:p.Thr97Ala
NP_001263689.1:p.Thr217Ala
NP_001263690.1:p.Thr217Ala
LRG_321t1:c.766A>G
LRG_321:g.18354A>G
LRG_321p1:p.Thr256Ala
NC_000017.10:g.7577515T>C
NM_000546.4:c.766A>G
NM_000546.5:c.766A>G
p.T256A

Protein change:

T124A

Links:

dbSNP: rs587781433

NCBI 1000 Genomes Browser:

rs587781433

Molecular consequence:

NM_000546.6:c.766A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.766A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.766A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.766A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.370A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.370A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.370A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.649A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.649A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.649A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.289A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.289A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.289A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.649A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.649A>G - 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
SCV000223793	Pathway Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 30, 2014)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 20127978, 21621601, 16861262, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000223793

Pathway Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 30, 2014)

germline

clinical testing

PubMed (4)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genetic diagnosis of familial breast cancer using clonal sequencing.

Morgan JE, Carr IM, Sheridan E, Chu CE, Hayward B, Camm N, Lindsay HA, Mattocks CJ, Markham AF, Bonthron DT, Taylor GR.

Hum Mutat. 2010 Apr;31(4):484-91. doi: 10.1002/humu.21216.

PubMed [citation]

PMID:: 20127978

Illuminator, a desktop program for mutation detection using short-read clonal sequencing.

Carr IM, Morgan JE, Diggle CP, Sheridan E, Markham AF, Logan CV, Inglehearn CF, Taylor GR, Bonthron DT.

Genomics. 2011 Oct;98(4):302-9. doi: 10.1016/j.ygeno.2011.05.004. Epub 2011 May 19.

PubMed [citation]

PMID:: 21621601

See all PubMed Citations (4)

Details of each submission

From Pathway Genomics, SCV000223793.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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: Sep 29, 2024

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