NM_000546.6(TP53):c.876dup (p.Gly293fs) AND Li-Fraumeni syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 21, 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:: RCV004440351.1

Allele description [Variation Report for NM_000546.6(TP53):c.876dup (p.Gly293fs)]

NM_000546.6(TP53):c.876dup (p.Gly293fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.876dup (p.Gly293fs)

HGVS:

NC_000017.11:g.7673746dup
NG_017013.2:g.18807dup
NM_000546.6:c.876dupMANE SELECT
NM_001126112.3:c.876dup
NM_001126113.3:c.876dup
NM_001126114.3:c.876dup
NM_001126115.2:c.480dup
NM_001126116.2:c.480dup
NM_001126117.2:c.480dup
NM_001126118.2:c.759dup
NM_001276695.3:c.759dup
NM_001276696.3:c.759dup
NM_001276697.3:c.399dup
NM_001276698.3:c.399dup
NM_001276699.3:c.399dup
NM_001276760.3:c.759dup
NM_001276761.3:c.759dup
NM_001407262.1:c.876dup
NM_001407263.1:c.759dup
NM_001407264.1:c.876dup
NM_001407265.1:c.759dup
NM_001407266.1:c.876dup
NM_001407267.1:c.759dup
NM_001407268.1:c.876dup
NM_001407269.1:c.759dup
NM_001407270.1:c.876dup
NM_001407271.1:c.759dup
NP_000537.3:p.Gly293Argfs
NP_000537.3:p.Gly293fs
NP_001119584.1:p.Gly293Argfs
NP_001119584.1:p.Gly293fs
NP_001119585.1:p.Gly293Argfs
NP_001119585.1:p.Gly293fs
NP_001119586.1:p.Gly293Argfs
NP_001119586.1:p.Gly293fs
NP_001119587.1:p.Gly161Argfs
NP_001119587.1:p.Gly161fs
NP_001119588.1:p.Gly161Argfs
NP_001119588.1:p.Gly161fs
NP_001119589.1:p.Gly161Argfs
NP_001119589.1:p.Gly161fs
NP_001119590.1:p.Gly254Argfs
NP_001119590.1:p.Gly254fs
NP_001263624.1:p.Gly254fs
NP_001263625.1:p.Gly254fs
NP_001263626.1:p.Gly134fs
NP_001263627.1:p.Gly134fs
NP_001263628.1:p.Gly134fs
NP_001263689.1:p.Gly254fs
NP_001263690.1:p.Gly254fs
NP_001394191.1:p.Gly293fs
NP_001394192.1:p.Gly254fs
NP_001394193.1:p.Gly293fs
NP_001394194.1:p.Gly254fs
NP_001394195.1:p.Gly293fs
NP_001394196.1:p.Gly254fs
NP_001394197.1:p.Gly293fs
NP_001394198.1:p.Gly254fs
NP_001394199.1:p.Gly293fs
NP_001394200.1:p.Gly254fs
LRG_321t1:c.874dup
LRG_321t2:c.874dup
LRG_321t3:c.874dup
LRG_321t4:c.874dup
LRG_321t5:c.478dup
LRG_321t6:c.478dup
LRG_321t7:c.478dup
LRG_321t8:c.757dup
LRG_321:g.18807dup
LRG_321:p.Gly293Argfs
LRG_321p1:p.Gly293Argfs
LRG_321p3:p.Gly293Argfs
LRG_321p4:p.Gly293Argfs
LRG_321p5:p.Gly161Argfs
LRG_321p6:p.Gly161Argfs
LRG_321p7:p.Gly161Argfs
LRG_321p8:p.Gly254Argfs
NC_000017.10:g.7577064dup
NM_000546.5:c.874dup
NM_001126112.2:c.874dup
NM_001126113.2:c.874dup
NM_001126114.2:c.874dup
NM_001126115.1:c.478dup
NM_001126116.1:c.478dup
NM_001126117.1:c.478dup
NM_001126118.1:c.757dup
NR_176326.1:n.905dup

Protein change:

G134fs

Molecular consequence:

NM_000546.6:c.876dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126112.3:c.876dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126113.3:c.876dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126114.3:c.876dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126115.2:c.480dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126116.2:c.480dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126117.2:c.480dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126118.2:c.759dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276695.3:c.759dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276696.3:c.759dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276697.3:c.399dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276698.3:c.399dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276699.3:c.399dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276760.3:c.759dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276761.3:c.759dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407262.1:c.876dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407263.1:c.759dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407264.1:c.876dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407265.1:c.759dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407266.1:c.876dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407267.1:c.759dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407268.1:c.876dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407269.1:c.759dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407270.1:c.876dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407271.1:c.759dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_176326.1:n.905dup - 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
SCV004932756	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Feb 21, 2024)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004932756

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Feb 21, 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., SCV004932756.1

#	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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