NM_000546.6(TP53):c.365_366del (p.Val122fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 12, 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:: RCV000115720.6

Allele description [Variation Report for NM_000546.6(TP53):c.365_366del (p.Val122fs)]

NM_000546.6(TP53):c.365_366del (p.Val122fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.365_366del (p.Val122fs)

HGVS:

NC_000017.11:g.7676003CA[1]
NG_017013.2:g.16545TG[1]
NM_000546.6:c.365_366delMANE SELECT
NM_001126112.3:c.365_366del
NM_001126113.3:c.365_366del
NM_001126114.3:c.365_366del
NM_001126118.2:c.248_249del
NM_001276695.3:c.248_249del
NM_001276696.3:c.248_249del
NM_001276760.3:c.248_249del
NM_001276761.3:c.248_249del
NP_000537.3:p.Val122fs
NP_001119584.1:p.Val122fs
NP_001119584.1:p.Val122fs
NP_001119585.1:p.Val122fs
NP_001119586.1:p.Val122fs
NP_001119590.1:p.Val83fs
NP_001263624.1:p.Val83fs
NP_001263625.1:p.Val83fs
NP_001263689.1:p.Val83fs
NP_001263690.1:p.Val83fs
LRG_321t2:c.363_364TG[1]
LRG_321:g.16545TG[1]
LRG_321:p.Val122fs
NC_000017.10:g.7579321CA[1]
NC_000017.10:g.7579321_7579322del
NM_000546.4:c.365_366del
NM_000546.4:c.365_366delTG
NM_000546.5:c.365_366delTG
NM_000546.6:c.365_366del
NM_001126112.2:c.363_364TG[1]
NM_001126118.1:c.248_249delTG
p.V122DfsX26
p.Val122AspfsX26

Protein change:

V122fs

Links:

dbSNP: rs587780067

NCBI 1000 Genomes Browser:

rs587780067

Molecular consequence:

NM_000546.6:c.365_366del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126112.3:c.365_366del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126113.3:c.365_366del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126114.3:c.365_366del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126118.2:c.248_249del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276695.3:c.248_249del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276696.3:c.248_249del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276760.3:c.248_249del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276761.3:c.248_249del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000149629	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Feb 12, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000149629

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Feb 12, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000149629.13

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26681312, 30720243, 23243274, 16959974, 30093976, 16401470, 31081129)

#	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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