NM_000546.6(TP53):c.345_352delinsAGCC (p.His115fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 22, 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:: RCV002457200.2

Allele description [Variation Report for NM_000546.6(TP53):c.345_352delinsAGCC (p.His115fs)]

NM_000546.6(TP53):c.345_352delinsAGCC (p.His115fs)

Gene:

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

Variant type:

Indel

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.345_352delinsAGCC (p.His115fs)

HGVS:

NC_000017.11:g.7676017_7676024delinsGGCT
NG_017013.2:g.16527_16534delinsAGCC
NM_000546.6:c.345_352delinsAGCCMANE SELECT
NM_001126112.3:c.345_352delinsAGCC
NM_001126113.3:c.345_352delinsAGCC
NM_001126114.3:c.345_352delinsAGCC
NM_001126118.2:c.228_235delinsAGCC
NM_001276695.3:c.228_235delinsAGCC
NM_001276696.3:c.228_235delinsAGCC
NM_001276760.3:c.228_235delinsAGCC
NM_001276761.3:c.228_235delinsAGCC
NM_001407262.1:c.345_352delTTCTGGGAinsAGCC
NM_001407263.1:c.228_235delTTCTGGGAinsAGCC
NM_001407264.1:c.345_352delTTCTGGGAinsAGCC
NM_001407265.1:c.228_235delTTCTGGGAinsAGCC
NM_001407266.1:c.345_352delTTCTGGGAinsAGCC
NM_001407267.1:c.228_235delTTCTGGGAinsAGCC
NM_001407268.1:c.345_352delTTCTGGGAinsAGCC
NM_001407269.1:c.228_235delTTCTGGGAinsAGCC
NM_001407270.1:c.345_352delTTCTGGGAinsAGCC
NM_001407271.1:c.228_235delTTCTGGGAinsAGCC
NP_000537.3:p.His115Glnfs
NP_000537.3:p.His115fs
NP_001119584.1:p.His115Glnfs
NP_001119584.1:p.His115fs
NP_001119585.1:p.His115Glnfs
NP_001119585.1:p.His115fs
NP_001119586.1:p.His115Glnfs
NP_001119586.1:p.His115fs
NP_001119590.1:p.His76Glnfs
NP_001119590.1:p.His76fs
NP_001263624.1:p.His76fs
NP_001263625.1:p.His76fs
NP_001263689.1:p.His76fs
NP_001263690.1:p.His76fs
NP_001394191.1:p.His115Glnfs
NP_001394192.1:p.His76Glnfs
NP_001394193.1:p.His115Glnfs
NP_001394194.1:p.His76Glnfs
NP_001394195.1:p.His115Glnfs
NP_001394196.1:p.His76Glnfs
NP_001394197.1:p.His115Glnfs
NP_001394198.1:p.His76Glnfs
NP_001394199.1:p.His115Glnfs
NP_001394200.1:p.His76Glnfs
LRG_321t1:c.345_352delTTCTGGGAinsAGCC
LRG_321t2:c.345_352delTTCTGGGAinsAGCC
LRG_321t3:c.345_352delTTCTGGGAinsAGCC
LRG_321t4:c.345_352delTTCTGGGAinsAGCC
LRG_321t8:c.228_235delTTCTGGGAinsAGCC
LRG_321:g.16527_16534delinsAGCC
LRG_321:p.His115Glnfs
LRG_321p1:p.His115Glnfs
LRG_321p3:p.His115Glnfs
LRG_321p4:p.His115Glnfs
LRG_321p8:p.His76Glnfs
NC_000017.10:g.7579335_7579342delinsGGCT
NM_000546.4:c.345_352delTTCTGGGAinsAGCC
NM_000546.5:c.345_352delTTCTGGGAinsAGCC
NM_001126112.2:c.345_352delTTCTGGGAinsAGCC
NM_001126113.2:c.345_352delTTCTGGGAinsAGCC
NM_001126114.2:c.345_352delTTCTGGGAinsAGCC
NM_001126118.1:c.228_235delTTCTGGGAinsAGCC
NR_176326.1:n.487_494delTTCTGGGAinsAGCC

Protein change:

H115fs

Molecular consequence:

NM_000546.6:c.345_352delinsAGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126112.3:c.345_352delinsAGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126113.3:c.345_352delinsAGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126114.3:c.345_352delinsAGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126118.2:c.228_235delinsAGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276695.3:c.228_235delinsAGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276696.3:c.228_235delinsAGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276760.3:c.228_235delinsAGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276761.3:c.228_235delinsAGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407262.1:c.345_352delTTCTGGGAinsAGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407263.1:c.228_235delTTCTGGGAinsAGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407264.1:c.345_352delTTCTGGGAinsAGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407265.1:c.228_235delTTCTGGGAinsAGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407266.1:c.345_352delTTCTGGGAinsAGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407267.1:c.228_235delTTCTGGGAinsAGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407268.1:c.345_352delTTCTGGGAinsAGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407269.1:c.228_235delTTCTGGGAinsAGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407270.1:c.345_352delTTCTGGGAinsAGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407271.1:c.228_235delTTCTGGGAinsAGCC - 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

Recent activity

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cytochrome oxidase subunit 1, partial (mitochondrion) [Chaetopsis fulvifrons]
cytochrome oxidase subunit 1, partial (mitochondrion) [Chaetopsis fulvifrons]
gi|1016563185|gb|AMX23388.1|

Protein
Homologene neighbors for GEO Profiles (Select 71224242) (0)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002615432	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Nov 22, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002615432

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Nov 22, 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, SCV002615432.2

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

Description

The c.345_352delTTCTGGGAinsAGCC pathogenic mutation, located in coding exon 3 of the TP53 gene, results from the deletion of 8 nucleotides and insertion of 4 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.H115Qfs*7). 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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