NM_000546.6(TP53):c.322_339del (p.Gly108_Phe113del) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 17, 2015
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:: RCV000255088.2

Allele description [Variation Report for NM_000546.6(TP53):c.322_339del (p.Gly108_Phe113del)]

NM_000546.6(TP53):c.322_339del (p.Gly108_Phe113del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.322_339del (p.Gly108_Phe113del)

HGVS:

NC_000017.11:g.7676031_7676048del
NG_017013.2:g.16504_16521del
NM_000546.6:c.322_339delMANE SELECT
NM_001126112.3:c.322_339del
NM_001126113.3:c.322_339del
NM_001126114.3:c.322_339del
NM_001126118.2:c.205_222del
NM_001276695.3:c.205_222del
NM_001276696.3:c.205_222del
NM_001276760.3:c.205_222del
NM_001276761.3:c.205_222del
NP_000537.3:p.Gly108_Phe113del
NP_001119584.1:p.Gly108_Phe113del
NP_001119585.1:p.Gly108_Phe113del
NP_001119586.1:p.Gly108_Phe113del
NP_001119590.1:p.Gly69_Phe74del
NP_001263624.1:p.Gly69_Phe74del
NP_001263625.1:p.Gly69_Phe74del
NP_001263689.1:p.Gly69_Phe74del
NP_001263690.1:p.Gly69_Phe74del
LRG_321:g.16504_16521del
NC_000017.10:g.7579348_7579365del
NC_000017.10:g.7579349_7579366del
NM_000546.4:c.322_339delGGTTTCCGTCTGGGCTTC

Links:

dbSNP: rs886039495

NCBI 1000 Genomes Browser:

rs886039495

Molecular consequence:

NM_000546.6:c.322_339del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126112.3:c.322_339del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126113.3:c.322_339del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126114.3:c.322_339del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126118.2:c.205_222del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276695.3:c.205_222del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276696.3:c.205_222del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276760.3:c.205_222del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276761.3:c.205_222del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000322152	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Aug 17, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000322152

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Aug 17, 2015)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000322152.7

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

Description

To our knowledge, the c.322_339del18 variant in the TP53 gene has not been published as apathogenic variant, nor has it been reported as a benign variant. The c.322_339del18 variant causesan in-frame deletion of six amino acids starting with codon glycine 108, denotedp.Gly108_Phe113del. The c.322_339del18 variant was not observed in approximately 6,500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. Therefore, this variant is likelypathogenic; however, the possibility that it is benign cannot be excluded.

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

Last Updated: Nov 10, 2024

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