NM_000546.6(TP53):c.880del (p.Glu294fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 21, 2023
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:: RCV003196404.2

Allele description [Variation Report for NM_000546.6(TP53):c.880del (p.Glu294fs)]

NM_000546.6(TP53):c.880del (p.Glu294fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.880del (p.Glu294fs)

HGVS:

NC_000017.11:g.7673743del
NG_017013.2:g.18811del
NM_000546.6:c.880delMANE SELECT
NM_001126112.3:c.880del
NM_001126113.3:c.880del
NM_001126114.3:c.880del
NM_001126115.2:c.484del
NM_001126116.2:c.484del
NM_001126117.2:c.484del
NM_001126118.2:c.763del
NM_001276695.3:c.763del
NM_001276696.3:c.763del
NM_001276697.3:c.403del
NM_001276698.3:c.403del
NM_001276699.3:c.403del
NM_001276760.3:c.763del
NM_001276761.3:c.763del
NM_001407262.1:c.880del
NM_001407263.1:c.763del
NM_001407264.1:c.880del
NM_001407265.1:c.763del
NM_001407266.1:c.880del
NM_001407267.1:c.763del
NM_001407268.1:c.880del
NM_001407269.1:c.763del
NM_001407270.1:c.880del
NM_001407271.1:c.763del
NP_000537.3:p.Glu294Serfs
NP_000537.3:p.Glu294fs
NP_001119584.1:p.Glu294Serfs
NP_001119584.1:p.Glu294fs
NP_001119585.1:p.Glu294Serfs
NP_001119585.1:p.Glu294fs
NP_001119586.1:p.Glu294Serfs
NP_001119586.1:p.Glu294fs
NP_001119587.1:p.Glu162Serfs
NP_001119587.1:p.Glu162fs
NP_001119588.1:p.Glu162Serfs
NP_001119588.1:p.Glu162fs
NP_001119589.1:p.Glu162Serfs
NP_001119589.1:p.Glu162fs
NP_001119590.1:p.Glu255Serfs
NP_001119590.1:p.Glu255fs
NP_001263624.1:p.Glu255fs
NP_001263625.1:p.Glu255fs
NP_001263626.1:p.Glu135fs
NP_001263627.1:p.Glu135fs
NP_001263628.1:p.Glu135fs
NP_001263689.1:p.Glu255fs
NP_001263690.1:p.Glu255fs
NP_001394191.1:p.Glu294fs
NP_001394192.1:p.Glu255fs
NP_001394193.1:p.Glu294fs
NP_001394194.1:p.Glu255fs
NP_001394195.1:p.Glu294fs
NP_001394196.1:p.Glu255fs
NP_001394197.1:p.Glu294fs
NP_001394198.1:p.Glu255fs
NP_001394199.1:p.Glu294fs
NP_001394200.1:p.Glu255fs
LRG_321t1:c.877del
LRG_321t2:c.877del
LRG_321t3:c.877del
LRG_321t4:c.877del
LRG_321t5:c.481del
LRG_321t6:c.481del
LRG_321t7:c.481del
LRG_321t8:c.760del
LRG_321:g.18811del
LRG_321:p.Glu294Serfs
LRG_321p1:p.Glu294Serfs
LRG_321p3:p.Glu294Serfs
LRG_321p4:p.Glu294Serfs
LRG_321p5:p.Glu162Serfs
LRG_321p6:p.Glu162Serfs
LRG_321p7:p.Glu162Serfs
LRG_321p8:p.Glu255Serfs
NC_000017.10:g.7577058del
NC_000017.10:g.7577061del
NM_000546.4:c.880delG
NM_000546.5:c.877delG
NM_001126112.2:c.877delG
NM_001126113.2:c.877delG
NM_001126114.2:c.877delG
NM_001126115.1:c.481delG
NM_001126116.1:c.481delG
NM_001126117.1:c.481delG
NM_001126118.1:c.760delG
NR_176326.1:n.909del

Protein change:

E135fs

Molecular consequence:

NM_000546.6:c.880del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126112.3:c.880del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126113.3:c.880del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126114.3:c.880del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126115.2:c.484del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126116.2:c.484del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126117.2:c.484del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126118.2:c.763del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276695.3:c.763del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276696.3:c.763del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276697.3:c.403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276698.3:c.403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276699.3:c.403del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276760.3:c.763del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276761.3:c.763del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407262.1:c.880del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407263.1:c.763del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407264.1:c.880del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407265.1:c.763del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407266.1:c.880del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407267.1:c.763del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407268.1:c.880del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407269.1:c.763del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407270.1:c.880del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407271.1:c.763del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_176326.1:n.909del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Recent activity

Clear Turn Off Turn On

PREDICTED: Homo sapiens centromere protein U (CENPU), transcript variant X1, mRN...
PREDICTED: Homo sapiens centromere protein U (CENPU), transcript variant X1, mRNA
gi|2462598864|ref|XM_054350827.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003878913	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Feb 21, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003878913

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Feb 21, 2023)

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, SCV003878913.2

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

Description

The c.880delG pathogenic mutation, located in coding exon 7 of the TP53 gene, results from a deletion of one nucleotide at nucleotide position 880, causing a translational frameshift with a predicted alternate stop codon (p.E294Sfs*51). This variant has been determined to be the result of a de novo mutation or germline mosaicism in one individual with TP53-associated disease (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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: Sep 29, 2024

ClinVar

Relating variation to medicine