NM_000546.6(TP53):c.332_351delinsCT (p.Leu111_Gly117delinsPro) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 6, 2020
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:: RCV002326375.2

Allele description [Variation Report for NM_000546.6(TP53):c.332_351delinsCT (p.Leu111_Gly117delinsPro)]

NM_000546.6(TP53):c.332_351delinsCT (p.Leu111_Gly117delinsPro)

Gene:

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

Variant type:

Indel

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.332_351delinsCT (p.Leu111_Gly117delinsPro)

HGVS:

NC_000017.11:g.7676018_7676037delinsAG
NG_017013.2:g.16514_16533delinsCT
NM_000546.6:c.332_351delinsCTMANE SELECT
NM_001126112.3:c.332_351delinsCT
NM_001126113.3:c.332_351delinsCT
NM_001126114.3:c.332_351delinsCT
NM_001126118.2:c.215_234delinsCT
NM_001276695.3:c.215_234delinsCT
NM_001276696.3:c.215_234delinsCT
NM_001276760.3:c.215_234delinsCT
NM_001276761.3:c.215_234delinsCT
NM_001407262.1:c.332_351del20insCT
NM_001407263.1:c.215_234del20insCT
NM_001407264.1:c.332_351del20insCT
NM_001407265.1:c.215_234del20insCT
NM_001407266.1:c.332_351del20insCT
NM_001407267.1:c.215_234del20insCT
NM_001407268.1:c.332_351del20insCT
NM_001407269.1:c.215_234del20insCT
NM_001407270.1:c.332_351del20insCT
NM_001407271.1:c.215_234del20insCT
NP_000537.3:p.Leu111_Gly117delinsPro
NP_000537.3:p.Leu111_Gly117delinsPro
NP_001119584.1:p.Leu111_Gly117delinsPro
NP_001119584.1:p.Leu111_Gly117delinsPro
NP_001119585.1:p.Leu111_Gly117delinsPro
NP_001119585.1:p.Leu111_Gly117delinsPro
NP_001119586.1:p.Leu111_Gly117delinsPro
NP_001119586.1:p.Leu111_Gly117delinsPro
NP_001119590.1:p.Leu72_Gly78delinsPro
NP_001119590.1:p.Leu72_Gly78delinsPro
NP_001263624.1:p.Leu72_Gly78delinsPro
NP_001263625.1:p.Leu72_Gly78delinsPro
NP_001263689.1:p.Leu72_Gly78delinsPro
NP_001263690.1:p.Leu72_Gly78delinsPro
NP_001394191.1:p.Leu111_Gly117delinsPro
NP_001394192.1:p.Leu72_Gly78delinsPro
NP_001394193.1:p.Leu111_Gly117delinsPro
NP_001394194.1:p.Leu72_Gly78delinsPro
NP_001394195.1:p.Leu111_Gly117delinsPro
NP_001394196.1:p.Leu72_Gly78delinsPro
NP_001394197.1:p.Leu111_Gly117delinsPro
NP_001394198.1:p.Leu72_Gly78delinsPro
NP_001394199.1:p.Leu111_Gly117delinsPro
NP_001394200.1:p.Leu72_Gly78delinsPro
LRG_321t1:c.332_351del20insCT
LRG_321t2:c.332_351del20insCT
LRG_321t3:c.332_351del20insCT
LRG_321t4:c.332_351del20insCT
LRG_321t8:c.215_234del20insCT
LRG_321:g.16514_16533delinsCT
LRG_321:p.Leu111_Gly117delinsPro
LRG_321p1:p.Leu111_Gly117delinsPro
LRG_321p3:p.Leu111_Gly117delinsPro
LRG_321p4:p.Leu111_Gly117delinsPro
LRG_321p8:p.Leu72_Gly78delinsPro
NC_000017.10:g.7579336_7579355delinsAG
NM_000546.4:c.332_351del20insCT
NM_000546.5:c.332_351del20insCT
NM_001126112.2:c.332_351del20insCT
NM_001126113.2:c.332_351del20insCT
NM_001126114.2:c.332_351del20insCT
NM_001126118.1:c.215_234del20insCT
NR_176326.1:n.474_493del20insCT

Molecular consequence:

NM_000546.6:c.332_351delinsCT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001126112.3:c.332_351delinsCT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001126113.3:c.332_351delinsCT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001126114.3:c.332_351delinsCT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001126118.2:c.215_234delinsCT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001276695.3:c.215_234delinsCT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001276696.3:c.215_234delinsCT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001276760.3:c.215_234delinsCT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001276761.3:c.215_234delinsCT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407262.1:c.332_351del20insCT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407263.1:c.215_234del20insCT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407264.1:c.332_351del20insCT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407265.1:c.215_234del20insCT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407266.1:c.332_351del20insCT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407267.1:c.215_234del20insCT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407268.1:c.332_351del20insCT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407269.1:c.215_234del20insCT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407270.1:c.332_351del20insCT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407271.1:c.215_234del20insCT - inframe_indel - [Sequence Ontology: SO:0001820]

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
SCV002606112	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 6, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002606112

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 6, 2020)

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, SCV002606112.2

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

Description

The c.332_351del20insCT variant (also known as p.L111_G117delinsP), located in coding exon 3 of the TP53 gene, results from an in-frame deletion of 20 nucleotides and insertion of CT at nucleotide positions 332 to 351. This results in the deletion of 7 amino acid residues between codons 111 and 117 and the insertion of proline residue. This amino acid region is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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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