NM_000546.6(TP53):c.730_744del (p.Gly244_Arg248del) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 17, 2012
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:: RCV000492700.1

Allele description [Variation Report for NM_000546.6(TP53):c.730_744del (p.Gly244_Arg248del)]

NM_000546.6(TP53):c.730_744del (p.Gly244_Arg248del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.730_744del (p.Gly244_Arg248del)

HGVS:

NC_000017.11:g.7674220_7674234del
NG_017013.2:g.18318_18332del
NM_000546.6:c.730_744delMANE SELECT
NM_001126112.3:c.730_744del
NM_001126113.3:c.730_744del
NM_001126114.3:c.730_744del
NM_001126115.2:c.334_348del
NM_001126116.2:c.334_348del
NM_001126117.2:c.334_348del
NM_001126118.2:c.613_627del
NM_001276695.3:c.613_627del
NM_001276696.3:c.613_627del
NM_001276697.3:c.253_267del
NM_001276698.3:c.253_267del
NM_001276699.3:c.253_267del
NM_001276760.3:c.613_627del
NM_001276761.3:c.613_627del
NP_000537.3:p.Gly244_Arg248del
NP_001119584.1:p.Gly244_Arg248del
NP_001119585.1:p.Gly244_Arg248del
NP_001119586.1:p.Gly244_Arg248del
NP_001119587.1:p.Gly112_Arg116del
NP_001119588.1:p.Gly112_Arg116del
NP_001119589.1:p.Gly112_Arg116del
NP_001119590.1:p.Gly205_Arg209del
NP_001263624.1:p.Gly205_Arg209del
NP_001263625.1:p.Gly205_Arg209del
NP_001263626.1:p.Gly85_Arg89del
NP_001263627.1:p.Gly85_Arg89del
NP_001263628.1:p.Gly85_Arg89del
NP_001263689.1:p.Gly205_Arg209del
NP_001263690.1:p.Gly205_Arg209del
LRG_321:g.18318_18332del
NC_000017.10:g.7577538_7577552del
NM_000546.4:c.730_744del15

Links:

dbSNP: rs1555525486

NCBI 1000 Genomes Browser:

rs1555525486

Molecular consequence:

NM_000546.6:c.730_744del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126112.3:c.730_744del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126113.3:c.730_744del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126114.3:c.730_744del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126115.2:c.334_348del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126116.2:c.334_348del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126117.2:c.334_348del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126118.2:c.613_627del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276695.3:c.613_627del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276696.3:c.613_627del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276697.3:c.253_267del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276698.3:c.253_267del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276699.3:c.253_267del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276760.3:c.613_627del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276761.3:c.613_627del - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

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
SCV000581093	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Pathogenic (Dec 17, 2012)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000581093

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Pathogenic
(Dec 17, 2012)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000581093.4

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

Description

Co-segregation data for this variant is currently unavailable. This variant has not been detected in conjunction with a pathogenic mutation to date. Allele frequency data in population-based cohorts is not currently available.Amino acid residues 244 to 248 are well conserved in available vertebrate species.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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