NM_000546.6(TP53):c.758_760dup (p.Thr253dup) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 30, 2018
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:: RCV001026586.3

Allele description [Variation Report for NM_000546.6(TP53):c.758_760dup (p.Thr253dup)]

NM_000546.6(TP53):c.758_760dup (p.Thr253dup)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.758_760dup (p.Thr253dup)

HGVS:

NC_000017.11:g.7674205_7674207dup
NG_017013.2:g.18346_18348dup
NM_000546.6:c.758_760dupMANE SELECT
NM_001126112.3:c.758_760dup
NM_001126113.3:c.758_760dup
NM_001126114.3:c.758_760dup
NM_001126115.2:c.362_364dup
NM_001126116.2:c.362_364dup
NM_001126117.2:c.362_364dup
NM_001126118.2:c.641_643dup
NM_001276695.3:c.641_643dup
NM_001276696.3:c.641_643dup
NM_001276697.3:c.281_283dup
NM_001276698.3:c.281_283dup
NM_001276699.3:c.281_283dup
NM_001276760.3:c.641_643dup
NM_001276761.3:c.641_643dup
NP_000537.3:p.Thr253dup
NP_001119584.1:p.Thr253dup
NP_001119585.1:p.Thr253dup
NP_001119586.1:p.Thr253dup
NP_001119587.1:p.Thr121dup
NP_001119588.1:p.Thr121dup
NP_001119589.1:p.Thr121dup
NP_001119590.1:p.Thr214dup
NP_001263624.1:p.Thr214dup
NP_001263625.1:p.Thr214dup
NP_001263626.1:p.Thr94dup
NP_001263627.1:p.Thr94dup
NP_001263628.1:p.Thr94dup
NP_001263689.1:p.Thr214dup
NP_001263690.1:p.Thr214dup
LRG_321:g.18346_18348dup
NC_000017.10:g.7577523_7577525dup
NM_000546.4:c.758_760dupCCA

Links:

dbSNP: rs1597364131

NCBI 1000 Genomes Browser:

rs1597364131

Molecular consequence:

NM_000546.6:c.758_760dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001126112.3:c.758_760dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001126113.3:c.758_760dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001126114.3:c.758_760dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001126115.2:c.362_364dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001126116.2:c.362_364dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001126117.2:c.362_364dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001126118.2:c.641_643dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001276695.3:c.641_643dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001276696.3:c.641_643dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001276697.3:c.281_283dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001276698.3:c.281_283dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001276699.3:c.281_283dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001276760.3:c.641_643dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001276761.3:c.641_643dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV001188997	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 30, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001188997

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 30, 2018)

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, SCV001188997.4

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

Description

The c.758_760dupCCA variant (also known as p.T253dup), located in coding exon 6 of the TP53 gene, results from an in-frame duplication of CCA at nucleotide positions 758 to 760. This results in the duplication of an extra threonine residue between codons 253 and 254. This amino acid position is highly conserved through mammals. 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: May 1, 2024

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