NM_000546.6(TP53):c.768_769del (p.Leu257fs) AND Li-Fraumeni syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 16, 2024
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:: RCV004041757.1

Allele description [Variation Report for NM_000546.6(TP53):c.768_769del (p.Leu257fs)]

NM_000546.6(TP53):c.768_769del (p.Leu257fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.768_769del (p.Leu257fs)

HGVS:

NC_000017.11:g.7674195TG[1]
NG_017013.2:g.18354AC[1]
NM_000546.6:c.768_769delMANE SELECT
NM_001126112.3:c.768_769del
NM_001126113.3:c.768_769del
NM_001126114.3:c.768_769del
NM_001126115.2:c.372_373del
NM_001126116.2:c.372_373del
NM_001126117.2:c.372_373del
NM_001126118.2:c.651_652del
NM_001276695.3:c.651_652del
NM_001276696.3:c.651_652del
NM_001276697.3:c.291_292del
NM_001276698.3:c.291_292del
NM_001276699.3:c.291_292del
NM_001276760.3:c.651_652del
NM_001276761.3:c.651_652del
NP_000537.3:p.Leu257fs
NP_001119584.1:p.Leu257fs
NP_001119585.1:p.Leu257fs
NP_001119586.1:p.Leu257fs
NP_001119587.1:p.Leu125fs
NP_001119588.1:p.Leu125fs
NP_001119589.1:p.Leu125fs
NP_001119590.1:p.Leu218fs
NP_001263624.1:p.Leu218fs
NP_001263625.1:p.Leu218fs
NP_001263626.1:p.Leu98fs
NP_001263627.1:p.Leu98fs
NP_001263628.1:p.Leu98fs
NP_001263689.1:p.Leu218fs
NP_001263690.1:p.Leu218fs
LRG_321:g.18354AC[1]
NC_000017.10:g.7577512_7577513del
NC_000017.10:g.7577513TG[1]

Protein change:

L125fs

Links:

dbSNP: rs2151020122

NCBI 1000 Genomes Browser:

rs2151020122

Molecular consequence:

NM_000546.6:c.768_769del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126112.3:c.768_769del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126113.3:c.768_769del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126114.3:c.768_769del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126115.2:c.372_373del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126116.2:c.372_373del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126117.2:c.372_373del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126118.2:c.651_652del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276695.3:c.651_652del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276696.3:c.651_652del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276697.3:c.291_292del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276698.3:c.291_292del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276699.3:c.291_292del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276760.3:c.651_652del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276761.3:c.651_652del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Li-Fraumeni syndrome 1 (LFS)
Identifiers:: Gene: 553989; MedGen: C1835398; Orphanet: 524; OMIM: 151623

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Dependovirus
Dependovirus
A genus of the family PARVOVIRIDAE, subfamily PARVOVIRINAE, which are dependent on a coinfection with helper adenoviruses or herpesviruses for their efficient replication. The...<br/>Year introduced: 1994

MeSH
D000229 (1)
MeSH
PFKFB1 [Mirounga leonina]
PFKFB1 [Mirounga leonina]
Gene ID:118000485

Gene
MTMR4 [Vulpes vulpes]
MTMR4 [Vulpes vulpes]
Gene ID:112917923

Gene
PLA2G4E [Tupaia chinensis]
PLA2G4E [Tupaia chinensis]
Gene ID:102470223

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004933880	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Feb 16, 2024)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004933880

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Feb 16, 2024)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV004933880.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Sep 29, 2024

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