NM_000546.6(TP53):c.863_864insGGCACAGAGGAAGAGAA (p.Asn288fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 10, 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:: RCV000571294.3

Allele description [Variation Report for NM_000546.6(TP53):c.863_864insGGCACAGAGGAAGAGAA (p.Asn288fs)]

NM_000546.6(TP53):c.863_864insGGCACAGAGGAAGAGAA (p.Asn288fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.863_864insGGCACAGAGGAAGAGAA (p.Asn288fs)

HGVS:

NC_000017.11:g.7673772_7673773insCTTCTCTTCCTCTGTGC
NG_017013.2:g.18794_18795insGGCACAGAGGAAGAGAA
NM_000546.6:c.863_864insGGCACAGAGGAAGAGAAMANE SELECT
NM_001126112.3:c.863_864insGGCACAGAGGAAGAGAA
NM_001126113.3:c.863_864insGGCACAGAGGAAGAGAA
NM_001126114.3:c.863_864insGGCACAGAGGAAGAGAA
NM_001126115.2:c.467_468insGGCACAGAGGAAGAGAA
NM_001126116.2:c.467_468insGGCACAGAGGAAGAGAA
NM_001126117.2:c.467_468insGGCACAGAGGAAGAGAA
NM_001126118.2:c.746_747insGGCACAGAGGAAGAGAA
NM_001276695.3:c.746_747insGGCACAGAGGAAGAGAA
NM_001276696.3:c.746_747insGGCACAGAGGAAGAGAA
NM_001276697.3:c.386_387insGGCACAGAGGAAGAGAA
NM_001276698.3:c.386_387insGGCACAGAGGAAGAGAA
NM_001276699.3:c.386_387insGGCACAGAGGAAGAGAA
NM_001276760.3:c.746_747insGGCACAGAGGAAGAGAA
NM_001276761.3:c.746_747insGGCACAGAGGAAGAGAA
NP_000537.3:p.Asn288fs
NP_001119584.1:p.Asn288fs
NP_001119585.1:p.Asn288fs
NP_001119586.1:p.Asn288fs
NP_001119587.1:p.Asn156fs
NP_001119588.1:p.Asn156fs
NP_001119589.1:p.Asn156fs
NP_001119590.1:p.Asn249fs
NP_001263624.1:p.Asn249fs
NP_001263625.1:p.Asn249fs
NP_001263626.1:p.Asn129fs
NP_001263627.1:p.Asn129fs
NP_001263628.1:p.Asn129fs
NP_001263689.1:p.Asn249fs
NP_001263690.1:p.Asn249fs
LRG_321:g.18794_18795insGGCACAGAGGAAGAGAA
NC_000017.10:g.7577090_7577091insCTTCTCTTCCTCTGTGC
NM_000546.4:c.863_864insGGCACAGAGGAAGAGAA

Protein change:

N129fs

Links:

dbSNP: rs1555525156

NCBI 1000 Genomes Browser:

rs1555525156

Molecular consequence:

NM_000546.6:c.863_864insGGCACAGAGGAAGAGAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126112.3:c.863_864insGGCACAGAGGAAGAGAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126113.3:c.863_864insGGCACAGAGGAAGAGAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126114.3:c.863_864insGGCACAGAGGAAGAGAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126115.2:c.467_468insGGCACAGAGGAAGAGAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126116.2:c.467_468insGGCACAGAGGAAGAGAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126117.2:c.467_468insGGCACAGAGGAAGAGAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126118.2:c.746_747insGGCACAGAGGAAGAGAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276695.3:c.746_747insGGCACAGAGGAAGAGAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276696.3:c.746_747insGGCACAGAGGAAGAGAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276697.3:c.386_387insGGCACAGAGGAAGAGAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276698.3:c.386_387insGGCACAGAGGAAGAGAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276699.3:c.386_387insGGCACAGAGGAAGAGAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276760.3:c.746_747insGGCACAGAGGAAGAGAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276761.3:c.746_747insGGCACAGAGGAAGAGAA - 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
SCV000672407	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Nov 10, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000672407

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Nov 10, 2016)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

The UMD-p53 database: new mutations and analysis tools.

Béroud C, Soussi T.

Hum Mutat. 2003 Mar;21(3):176-81. Review.

PubMed [citation]

PMID:: 12619103

Details of each submission

From Ambry Genetics, SCV000672407.5

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

Description

The c.863_864ins17 pathogenic mutation (also known as p.N288KFS*63), located in coding exon 7 of the TP53 gene, results from an insertion of 17 nucleotides at position 863, causing a translational frameshift with a predicted alternate stop codon. Frameshifts are typically deleterious in nature, however, this frameshift occurs at the 3' terminus of TP53, is not expected to trigger nonsense-mediated mRNA decay, and impacts the last 106 amino acids of the protein. The exact functional impact of these altered amino acids is unknown at this time; however, this change will result in the loss of the tetramerization and regulatory domains of the protein (Soussi T. Human Mutation 2003 Mar;21(3):176-81). 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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