NM_000546.6(TP53):c.331_365dup (p.Thr123fs) AND Li-Fraumeni syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 29, 2016
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:: RCV002280147.2

Allele description [Variation Report for NM_000546.6(TP53):c.331_365dup (p.Thr123fs)]

NM_000546.6(TP53):c.331_365dup (p.Thr123fs)

Gene:

TP53:tumor protein p53 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.331_365dup (p.Thr123fs)

HGVS:

NC_000017.11:g.7676006_7676040dup
NG_017013.2:g.16513_16547dup
NM_000546.6:c.331_365dupMANE SELECT
NM_001126112.3:c.331_365dup
NM_001126113.3:c.331_365dup
NM_001126114.3:c.331_365dup
NM_001126118.2:c.214_248dup
NM_001276695.3:c.214_248dup
NM_001276696.3:c.214_248dup
NM_001276760.3:c.214_248dup
NM_001276761.3:c.214_248dup
NP_000537.3:p.Thr123fs
NP_001119584.1:p.Thr123fs
NP_001119585.1:p.Thr123fs
NP_001119586.1:p.Thr123fs
NP_001119590.1:p.Thr84fs
NP_001263624.1:p.Thr84fs
NP_001263625.1:p.Thr84fs
NP_001263689.1:p.Thr84fs
NP_001263690.1:p.Thr84fs
LRG_321t3:c.331_365dup
LRG_321:g.16513_16547dup
NC_000017.10:g.7579324_7579358dup
NM_000546.4:c.331_365dup35
NM_000546.6:c.331_365dup
NM_001126114.2:c.331_365dup

Protein change:

T123fs

Links:

dbSNP: rs1597373467

NCBI 1000 Genomes Browser:

rs1597373467

Molecular consequence:

NM_000546.6:c.331_365dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126112.3:c.331_365dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126113.3:c.331_365dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126114.3:c.331_365dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126118.2:c.214_248dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276695.3:c.214_248dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276696.3:c.214_248dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276760.3:c.214_248dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276761.3:c.214_248dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Li-Fraumeni syndrome (LFS)
Synonyms:: Sarcoma family syndrome of Li and Fraumeni
Identifiers:: MONDO: MONDO:0018875; MedGen: C0085390; OMIM: PS151623

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002568380	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 29, 2016)	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

SCV002568380

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 29, 2016)

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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV002568380.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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