NM_000546.6(TP53):c.657dup (p.Tyr220fs) AND Li-Fraumeni syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 13, 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:: RCV004442596.1

Allele description [Variation Report for NM_000546.6(TP53):c.657dup (p.Tyr220fs)]

NM_000546.6(TP53):c.657dup (p.Tyr220fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.657dup (p.Tyr220fs)

HGVS:

NC_000017.11:g.7674876dup
NG_017013.2:g.17677dup
NM_000546.6:c.657dupMANE SELECT
NM_001126112.3:c.657dup
NM_001126113.3:c.657dup
NM_001126114.3:c.657dup
NM_001126115.2:c.261dup
NM_001126116.2:c.261dup
NM_001126117.2:c.261dup
NM_001126118.2:c.540dup
NM_001276695.3:c.540dup
NM_001276696.3:c.540dup
NM_001276697.3:c.180dup
NM_001276698.3:c.180dup
NM_001276699.3:c.180dup
NM_001276760.3:c.540dup
NM_001276761.3:c.540dup
NM_001407262.1:c.657dup
NM_001407263.1:c.540dup
NM_001407264.1:c.657dup
NM_001407265.1:c.540dup
NM_001407266.1:c.657dup
NM_001407267.1:c.540dup
NM_001407268.1:c.657dup
NM_001407269.1:c.540dup
NM_001407270.1:c.657dup
NM_001407271.1:c.540dup
NP_000537.3:p.Tyr220Leufs
NP_000537.3:p.Tyr220fs
NP_001119584.1:p.Tyr220Leufs
NP_001119584.1:p.Tyr220fs
NP_001119585.1:p.Tyr220Leufs
NP_001119585.1:p.Tyr220fs
NP_001119586.1:p.Tyr220Leufs
NP_001119586.1:p.Tyr220fs
NP_001119587.1:p.Tyr88Leufs
NP_001119587.1:p.Tyr88fs
NP_001119588.1:p.Tyr88Leufs
NP_001119588.1:p.Tyr88fs
NP_001119589.1:p.Tyr88Leufs
NP_001119589.1:p.Tyr88fs
NP_001119590.1:p.Tyr181Leufs
NP_001119590.1:p.Tyr181fs
NP_001263624.1:p.Tyr181fs
NP_001263625.1:p.Tyr181fs
NP_001263626.1:p.Tyr61fs
NP_001263627.1:p.Tyr61fs
NP_001263628.1:p.Tyr61fs
NP_001263689.1:p.Tyr181fs
NP_001263690.1:p.Tyr181fs
NP_001394191.1:p.Tyr220fs
NP_001394192.1:p.Tyr181fs
NP_001394193.1:p.Tyr220fs
NP_001394194.1:p.Tyr181fs
NP_001394195.1:p.Tyr220fs
NP_001394196.1:p.Tyr181fs
NP_001394197.1:p.Tyr220fs
NP_001394198.1:p.Tyr181fs
NP_001394199.1:p.Tyr220fs
NP_001394200.1:p.Tyr181fs
LRG_321t1:c.655dup
LRG_321t2:c.655dup
LRG_321t3:c.655dup
LRG_321t4:c.655dup
LRG_321t5:c.259dup
LRG_321t6:c.259dup
LRG_321t7:c.259dup
LRG_321t8:c.538dup
LRG_321:g.17677dup
LRG_321:p.Tyr220Leufs
LRG_321p1:p.Tyr220Leufs
LRG_321p3:p.Tyr220Leufs
LRG_321p4:p.Tyr220Leufs
LRG_321p5:p.Tyr88Leufs
LRG_321p6:p.Tyr88Leufs
LRG_321p7:p.Tyr88Leufs
LRG_321p8:p.Tyr181Leufs
NC_000017.10:g.7578194dup
NM_000546.5:c.655dup
NM_001126112.2:c.655dup
NM_001126113.2:c.655dup
NM_001126114.2:c.655dup
NM_001126115.1:c.259dup
NM_001126116.1:c.259dup
NM_001126117.1:c.259dup
NM_001126118.1:c.538dup

Protein change:

Y181fs

Molecular consequence:

NM_000546.6:c.657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126112.3:c.657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126113.3:c.657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126114.3:c.657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126115.2:c.261dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126116.2:c.261dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126117.2:c.261dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126118.2:c.540dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276695.3:c.540dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276696.3:c.540dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276697.3:c.180dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276698.3:c.180dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276699.3:c.180dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276760.3:c.540dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276761.3:c.540dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407262.1:c.657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407263.1:c.540dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407264.1:c.657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407265.1:c.540dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407266.1:c.657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407267.1:c.540dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407268.1:c.657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407269.1:c.540dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407270.1:c.657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407271.1:c.540dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

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BB528534 RIKEN full-length enriched, 15 days embryo head Mus musculus cDNA clone...
BB528534 RIKEN full-length enriched, 15 days embryo head Mus musculus cDNA clone D930047B11 3', mRNA sequence
gi|16445448|gnl|dbEST|10026984|dbj| 534.2|

Nucleotide
Mus musculus ES cells cDNA, RIKEN full-length enriched library, clone:2410012H02...
Mus musculus ES cells cDNA, RIKEN full-length enriched library, clone:2410012H02 product:RIKEN cDNA 2410012H02 gene, full insert sequence
gi|12845940|dbj|AK010471.1|

Nucleotide
ub70h04.x1 Soares_mammary_gland_NMLMG Mus musculus cDNA clone IMAGE:1383127 3', ...
ub70h04.x1 Soares_mammary_gland_NMLMG Mus musculus cDNA clone IMAGE:1383127 3', mRNA sequence
gi|4316201|gnl|dbEST|2278060|gb|AI4 .1|

Nucleotide
CBSS3893.fwd NICHD_XGC_tropSp1 Xenopus tropicalis cDNA clone IMAGE:8896407 5', m...
CBSS3893.fwd NICHD_XGC_tropSp1 Xenopus tropicalis cDNA clone IMAGE:8896407 5', mRNA sequence
gi|126605698|gnl|dbEST|45115278|gb| 919.1|

Nucleotide
Hexactinellida 16S ribosomal RNA gene, partial sequence; mitochondrial.
Hexactinellida 16S ribosomal RNA gene, partial sequence; mitochondrial.
PopSet: 1336429274

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004930925	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Feb 13, 2024)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004930925

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Feb 13, 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., SCV004930925.1

#	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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