NM_000546.6(TP53):c.64del (p.Leu22fs) AND Li-Fraumeni syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 12, 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:: RCV004442404.1

Allele description [Variation Report for NM_000546.6(TP53):c.64del (p.Leu22fs)]

NM_000546.6(TP53):c.64del (p.Leu22fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.64del (p.Leu22fs)

HGVS:

NC_000017.11:g.7676532del
NG_017013.2:g.16020del
NM_000546.6:c.64delMANE SELECT
NM_001126112.3:c.64del
NM_001126113.3:c.64del
NM_001126114.3:c.64del
NM_001126118.2:c.-171del
NM_001276695.3:c.-54del
NM_001276696.3:c.-54del
NM_001276760.3:c.-54del
NM_001276761.3:c.-54del
NM_001407262.1:c.64del
NM_001407263.1:c.-54del
NM_001407264.1:c.64del
NM_001407265.1:c.-54del
NM_001407266.1:c.64del
NM_001407267.1:c.-54del
NM_001407268.1:c.64del
NM_001407269.1:c.-54del
NM_001407270.1:c.64del
NM_001407271.1:c.-54del
NP_000537.3:p.Leu22Tyrfs
NP_000537.3:p.Leu22fs
NP_001119584.1:p.Leu22Tyrfs
NP_001119584.1:p.Leu22fs
NP_001119585.1:p.Leu22Tyrfs
NP_001119585.1:p.Leu22fs
NP_001119586.1:p.Leu22Tyrfs
NP_001119586.1:p.Leu22fs
NP_001394191.1:p.Leu22fs
NP_001394193.1:p.Leu22fs
NP_001394195.1:p.Leu22fs
NP_001394197.1:p.Leu22fs
NP_001394199.1:p.Leu22fs
LRG_321t1:c.63del
LRG_321t2:c.63del
LRG_321t3:c.63del
LRG_321t4:c.63del
LRG_321t8:c.-172del
LRG_321:g.16020del
LRG_321:p.Leu22Tyrfs
LRG_321p1:p.Leu22Tyrfs
LRG_321p3:p.Leu22Tyrfs
LRG_321p4:p.Leu22Tyrfs
NC_000017.10:g.7579850del
NM_000546.5:c.63delC
NM_001126112.2:c.63delC
NM_001126113.2:c.63delC
NM_001126114.2:c.63delC
NM_001126118.1:c.-172delC
NR_176326.1:n.206del

Protein change:

L22fs

Molecular consequence:

NM_001126118.2:c.-171del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276695.3:c.-54del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276696.3:c.-54del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276760.3:c.-54del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276761.3:c.-54del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407263.1:c.-54del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407265.1:c.-54del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407267.1:c.-54del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407269.1:c.-54del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407271.1:c.-54del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000546.6:c.64del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126112.3:c.64del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126113.3:c.64del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126114.3:c.64del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407262.1:c.64del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407264.1:c.64del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407266.1:c.64del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407268.1:c.64del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407270.1:c.64del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_176326.1:n.206del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004933672	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Feb 12, 2024)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004933672

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Feb 12, 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., SCV004933672.1

#	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: May 7, 2024

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