NM_000546.6(TP53):c.645del (p.Ser215fs) AND Li-Fraumeni syndrome 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 18, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002280198.4

Allele description [Variation Report for NM_000546.6(TP53):c.645del (p.Ser215fs)]

NM_000546.6(TP53):c.645del (p.Ser215fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.645del (p.Ser215fs)

Other names:

p.Ser215Argfs*32

HGVS:

NC_000017.11:g.7674886del
NG_017013.2:g.17665del
NM_000546.6:c.645delMANE SELECT
NM_001126112.3:c.645del
NM_001126113.3:c.645del
NM_001126114.3:c.645del
NM_001126115.2:c.249del
NM_001126116.2:c.249del
NM_001126117.2:c.249del
NM_001126118.2:c.528del
NM_001276695.3:c.528del
NM_001276696.3:c.528del
NM_001276697.3:c.168del
NM_001276698.3:c.168del
NM_001276699.3:c.168del
NM_001276760.3:c.528del
NM_001276761.3:c.528del
NP_000537.3:p.Ser215fs
NP_001119584.1:p.Ser215fs
NP_001119585.1:p.Ser215fs
NP_001119586.1:p.Ser215fs
NP_001119587.1:p.Ser83fs
NP_001119588.1:p.Ser83fs
NP_001119589.1:p.Ser83fs
NP_001119590.1:p.Ser176fs
NP_001263624.1:p.Ser176fs
NP_001263625.1:p.Ser176fs
NP_001263626.1:p.Ser56fs
NP_001263627.1:p.Ser56fs
NP_001263628.1:p.Ser56fs
NP_001263689.1:p.Ser176fs
NP_001263690.1:p.Ser176fs
LRG_321:g.17665del
NC_000017.10:g.7578204del

Protein change:

S176fs

Links:

dbSNP: rs2151026447

NCBI 1000 Genomes Browser:

rs2151026447

Molecular consequence:

NM_000546.6:c.645del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126112.3:c.645del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126113.3:c.645del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126114.3:c.645del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126115.2:c.249del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126116.2:c.249del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126117.2:c.249del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126118.2:c.528del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276695.3:c.528del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276696.3:c.528del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276697.3:c.168del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276698.3:c.168del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276699.3:c.168del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276760.3:c.528del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276761.3:c.528del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Li-Fraumeni syndrome 1 (LFS)
Identifiers:: Gene: 553989; MedGen: C1835398; Orphanet: 524; OMIM: 151623

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Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002567963	Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 34539758, 35886069, 25741868
SCV002583140	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 18, 2022)	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

SCV002567963

Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV002583140

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 18, 2022)

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	5	1	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li-Fraumeni Syndrome.

Paduano F, Fabiani F, Colao E, Trapasso F, Perrotti N, Barbieri V, Baudi F, Iuliano R.

Front Genet. 2021;12:734809. doi: 10.3389/fgene.2021.734809.

PubMed [citation]

PMID:: 34539758
PMCID:: PMC8440986

Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.

Paduano F, Colao E, Fabiani F, Rocca V, Dinatolo F, Dattola A, D'Antona L, Amato R, Trapasso F, Baudi F, Perrotti N, Iuliano R.

Genes (Basel). 2022 Jul 21;13(7). doi:pii: 1286. 10.3390/genes13071286.

PubMed [citation]

PMID:: 35886069
PMCID:: PMC9319682

See all PubMed Citations (3)

Details of each submission

From Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro, SCV002567963.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	clinical testing	PubMed (3)

#	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		5	not provided	1	not provided

From Genome-Nilou Lab, SCV002583140.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 14, 2024

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