NM_000546.6(TP53):c.1179dup (p.Ter394LeuextTer?) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 1, 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:: RCV000492658.3

Allele description [Variation Report for NM_000546.6(TP53):c.1179dup (p.Ter394LeuextTer?)]

NM_000546.6(TP53):c.1179dup (p.Ter394LeuextTer?)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.1179dup (p.Ter394LeuextTer?)

HGVS:

NC_000017.11:g.7669612dup
NG_017013.2:g.22939dup
NM_000546.6:c.1179dupMANE SELECT
NM_001126112.3:c.1179dup
NM_001126113.3:c.*198dup
NM_001126114.3:c.*286dup
NM_001126115.2:c.783dup
NM_001126116.2:c.*286dup
NM_001126117.2:c.*198dup
NM_001126118.2:c.1062dup
NM_001276695.3:c.*198dup
NM_001276696.3:c.*286dup
NM_001276697.3:c.702dup
NM_001276698.3:c.*286dup
NM_001276699.3:c.*198dup
NM_001276760.3:c.1062dup
NM_001276761.3:c.1062dup
NP_000537.3:p.Ter394LeuextTer?
NP_001119584.1:p.Ter394LeuextTer?
NP_001119587.1:p.Ter262LeuextTer?
NP_001119590.1:p.Ter355LeuextTer?
NP_001263626.1:p.Ter235LeuextTer?
NP_001263689.1:p.Ter355LeuextTer?
NP_001263690.1:p.Ter355LeuextTer?
LRG_321:g.22939dup
NC_000017.10:g.7572929_7572930insG
NC_000017.10:g.7572930dup
NM_000546.4:c.1179dupC

Links:

dbSNP: rs1131691024

NCBI 1000 Genomes Browser:

rs1131691024

Molecular consequence:

NM_001126113.3:c.*198dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001126114.3:c.*286dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001126116.2:c.*286dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001126117.2:c.*198dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276695.3:c.*198dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276696.3:c.*286dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276698.3:c.*286dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276699.3:c.*198dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000546.6:c.1179dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126112.3:c.1179dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126115.2:c.783dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126118.2:c.1062dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276697.3:c.702dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276760.3:c.1062dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276761.3:c.1062dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000546.6:c.1179dup - stop lost - [Sequence Ontology: SO:0001578]
NM_001126112.3:c.1179dup - stop lost - [Sequence Ontology: SO:0001578]
NM_001126115.2:c.783dup - stop lost - [Sequence Ontology: SO:0001578]
NM_001126118.2:c.1062dup - stop lost - [Sequence Ontology: SO:0001578]
NM_001276697.3:c.702dup - stop lost - [Sequence Ontology: SO:0001578]
NM_001276760.3:c.1062dup - stop lost - [Sequence Ontology: SO:0001578]
NM_001276761.3:c.1062dup - stop lost - [Sequence Ontology: SO:0001578]

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
SCV000581133	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 1, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000581133

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 1, 2016)

germline

clinical testing

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

Details of each submission

From Ambry Genetics, SCV000581133.6

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

Description

The c.1179dupC variant, located in coding exon 10 of the TP53 gene, results from a duplication of C at nucleotide position 1179, causing a translational frameshift with a predicted alternate stop codon. Per ACMG guidelines this variant could be interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med 2008;10:294); however this duplication and subsequent frameshift occur near the 3' terminus of TP53 and result in the elongation of the protein by 76 amino acids (p.*394Lext*76). The exact functional impact of these inserted amino acids is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Nov 10, 2024

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