NM_000546.6(TP53):c.909_916dup (p.Arg306fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 21, 2017
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:: RCV001018826.3

Allele description [Variation Report for NM_000546.6(TP53):c.909_916dup (p.Arg306fs)]

NM_000546.6(TP53):c.909_916dup (p.Arg306fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.909_916dup (p.Arg306fs)

HGVS:

NC_000017.11:g.7673704_7673711dup
NG_017013.2:g.18840_18847dup
NM_000546.6:c.909_916dupMANE SELECT
NM_001126112.3:c.909_916dup
NM_001126113.3:c.909_916dup
NM_001126114.3:c.909_916dup
NM_001126115.2:c.513_520dup
NM_001126116.2:c.513_520dup
NM_001126117.2:c.513_520dup
NM_001126118.2:c.792_799dup
NM_001276695.3:c.792_799dup
NM_001276696.3:c.792_799dup
NM_001276697.3:c.432_439dup
NM_001276698.3:c.432_439dup
NM_001276699.3:c.432_439dup
NM_001276760.3:c.792_799dup
NM_001276761.3:c.792_799dup
NP_000537.3:p.Arg306fs
NP_001119584.1:p.Arg306fs
NP_001119585.1:p.Arg306fs
NP_001119586.1:p.Arg306fs
NP_001119587.1:p.Arg174fs
NP_001119588.1:p.Arg174fs
NP_001119589.1:p.Arg174fs
NP_001119590.1:p.Arg267fs
NP_001263624.1:p.Arg267fs
NP_001263625.1:p.Arg267fs
NP_001263626.1:p.Arg147fs
NP_001263627.1:p.Arg147fs
NP_001263628.1:p.Arg147fs
NP_001263689.1:p.Arg267fs
NP_001263690.1:p.Arg267fs
LRG_321:g.18840_18847dup
NC_000017.10:g.7577022_7577029dup
NM_000546.4:c.909_916dupCACTAAGC

Protein change:

R147fs

Links:

dbSNP: rs1597360326

NCBI 1000 Genomes Browser:

rs1597360326

Molecular consequence:

NM_000546.6:c.909_916dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126112.3:c.909_916dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126113.3:c.909_916dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126114.3:c.909_916dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126115.2:c.513_520dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126116.2:c.513_520dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126117.2:c.513_520dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126118.2:c.792_799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276695.3:c.792_799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276696.3:c.792_799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276697.3:c.432_439dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276698.3:c.432_439dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276699.3:c.432_439dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276760.3:c.792_799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276761.3:c.792_799dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001180106	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Dec 21, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001180106

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Dec 21, 2017)

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, SCV001180106.4

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

Description

The c.909_916dupCACTAAGC pathogenic mutation, located in coding exon 7 of the TP53 gene, results from a duplication of CACTAAGC at nucleotide position 909, causing a translational frameshift with a predicted alternate stop codon (p.R306Pfs*42). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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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