NM_000546.6(TP53):c.812dup (p.Val272fs) AND Li-Fraumeni syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 17, 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:: RCV004442575.1

Allele description [Variation Report for NM_000546.6(TP53):c.812dup (p.Val272fs)]

NM_000546.6(TP53):c.812dup (p.Val272fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.812dup (p.Val272fs)

HGVS:

NC_000017.11:g.7673808dup
NG_017013.2:g.18743dup
NM_000546.6:c.812dupMANE SELECT
NM_001126112.3:c.812dup
NM_001126113.3:c.812dup
NM_001126114.3:c.812dup
NM_001126115.2:c.416dup
NM_001126116.2:c.416dup
NM_001126117.2:c.416dup
NM_001126118.2:c.695dup
NM_001276695.3:c.695dup
NM_001276696.3:c.695dup
NM_001276697.3:c.335dup
NM_001276698.3:c.335dup
NM_001276699.3:c.335dup
NM_001276760.3:c.695dup
NM_001276761.3:c.695dup
NM_001407262.1:c.812dup
NM_001407263.1:c.695dup
NM_001407264.1:c.812dup
NM_001407265.1:c.695dup
NM_001407266.1:c.812dup
NM_001407267.1:c.695dup
NM_001407268.1:c.812dup
NM_001407269.1:c.695dup
NM_001407270.1:c.812dup
NM_001407271.1:c.695dup
NP_000537.3:p.Val272Glyfs
NP_000537.3:p.Val272fs
NP_001119584.1:p.Val272Glyfs
NP_001119584.1:p.Val272fs
NP_001119585.1:p.Val272Glyfs
NP_001119585.1:p.Val272fs
NP_001119586.1:p.Val272Glyfs
NP_001119586.1:p.Val272fs
NP_001119587.1:p.Val140Glyfs
NP_001119587.1:p.Val140fs
NP_001119588.1:p.Val140Glyfs
NP_001119588.1:p.Val140fs
NP_001119589.1:p.Val140Glyfs
NP_001119589.1:p.Val140fs
NP_001119590.1:p.Val233Glyfs
NP_001119590.1:p.Val233fs
NP_001263624.1:p.Val233fs
NP_001263625.1:p.Val233fs
NP_001263626.1:p.Val113fs
NP_001263627.1:p.Val113fs
NP_001263628.1:p.Val113fs
NP_001263689.1:p.Val233fs
NP_001263690.1:p.Val233fs
NP_001394191.1:p.Val272fs
NP_001394192.1:p.Val233fs
NP_001394193.1:p.Val272fs
NP_001394194.1:p.Val233fs
NP_001394195.1:p.Val272fs
NP_001394196.1:p.Val233fs
NP_001394197.1:p.Val272fs
NP_001394198.1:p.Val233fs
NP_001394199.1:p.Val272fs
NP_001394200.1:p.Val233fs
LRG_321t1:c.812dup
LRG_321t2:c.812dup
LRG_321t3:c.812dup
LRG_321t4:c.812dup
LRG_321t5:c.416dup
LRG_321t6:c.416dup
LRG_321t7:c.416dup
LRG_321t8:c.695dup
LRG_321:g.18743dup
LRG_321:p.Val272Glyfs
LRG_321p1:p.Val272Glyfs
LRG_321p3:p.Val272Glyfs
LRG_321p4:p.Val272Glyfs
LRG_321p5:p.Val140Glyfs
LRG_321p6:p.Val140Glyfs
LRG_321p7:p.Val140Glyfs
LRG_321p8:p.Val233Glyfs
NC_000017.10:g.7577126dup
NM_000546.5:c.812dup
NM_001126112.2:c.812dup
NM_001126113.2:c.812dup
NM_001126114.2:c.812dup
NM_001126115.1:c.416dup
NM_001126116.1:c.416dup
NM_001126117.1:c.416dup
NM_001126118.1:c.695dup
NR_176326.1:n.841dup

Protein change:

V113fs

Molecular consequence:

NM_000546.6:c.812dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126112.3:c.812dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126113.3:c.812dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126114.3:c.812dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126115.2:c.416dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126116.2:c.416dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126117.2:c.416dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126118.2:c.695dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276695.3:c.695dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276696.3:c.695dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276697.3:c.335dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276698.3:c.335dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276699.3:c.335dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276760.3:c.695dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276761.3:c.695dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407262.1:c.812dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407263.1:c.695dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407264.1:c.812dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407265.1:c.695dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407266.1:c.812dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407267.1:c.695dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407268.1:c.812dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407269.1:c.695dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407270.1:c.812dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407271.1:c.695dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_176326.1:n.841dup - 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
SCV004930882	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Jan 17, 2024)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004930882

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Jan 17, 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., SCV004930882.1

#	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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