NM_000546.6(TP53):c.900_916dup (p.Arg306fs) 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:: RCV004442529.1

Allele description [Variation Report for NM_000546.6(TP53):c.900_916dup (p.Arg306fs)]

NM_000546.6(TP53):c.900_916dup (p.Arg306fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.900_916dup (p.Arg306fs)

HGVS:

NC_000017.11:g.7673705_7673721dup
NG_017013.2:g.18831_18847dup
NM_000546.6:c.900_916dupMANE SELECT
NM_001126112.3:c.900_916dup
NM_001126113.3:c.900_916dup
NM_001126114.3:c.900_916dup
NM_001126115.2:c.504_520dup
NM_001126116.2:c.504_520dup
NM_001126117.2:c.504_520dup
NM_001126118.2:c.783_799dup
NM_001276695.3:c.783_799dup
NM_001276696.3:c.783_799dup
NM_001276697.3:c.423_439dup
NM_001276698.3:c.423_439dup
NM_001276699.3:c.423_439dup
NM_001276760.3:c.783_799dup
NM_001276761.3:c.783_799dup
NM_001407262.1:c.900_916dup
NM_001407263.1:c.783_799dup
NM_001407264.1:c.900_916dup
NM_001407265.1:c.783_799dup
NM_001407266.1:c.900_916dup
NM_001407267.1:c.783_799dup
NM_001407268.1:c.900_916dup
NM_001407269.1:c.783_799dup
NM_001407270.1:c.900_916dup
NM_001407271.1:c.783_799dup
NP_000537.3:p.Arg306Profs
NP_000537.3:p.Arg306fs
NP_001119584.1:p.Arg306Profs
NP_001119584.1:p.Arg306fs
NP_001119585.1:p.Arg306Profs
NP_001119585.1:p.Arg306fs
NP_001119586.1:p.Arg306Profs
NP_001119586.1:p.Arg306fs
NP_001119587.1:p.Arg174Profs
NP_001119587.1:p.Arg174fs
NP_001119588.1:p.Arg174Profs
NP_001119588.1:p.Arg174fs
NP_001119589.1:p.Arg174Profs
NP_001119589.1:p.Arg174fs
NP_001119590.1:p.Arg267Profs
NP_001119590.1:p.Arg267fs
NP_001263624.1:p.Arg267fs
NP_001263625.1:p.Arg267fs
NP_001263626.1:p.Arg147fs
NP_001263627.1:p.Arg147fs
NP_001263628.1:p.Arg147fs
NP_001263689.1:p.Arg267fs
NP_001263690.1:p.Arg267fs
NP_001394191.1:p.Arg306fs
NP_001394192.1:p.Arg267fs
NP_001394193.1:p.Arg306fs
NP_001394194.1:p.Arg267fs
NP_001394195.1:p.Arg306fs
NP_001394196.1:p.Arg267fs
NP_001394197.1:p.Arg306fs
NP_001394198.1:p.Arg267fs
NP_001394199.1:p.Arg306fs
NP_001394200.1:p.Arg267fs
LRG_321t1:c.899_915dup
LRG_321t2:c.899_915dup
LRG_321t3:c.899_915dup
LRG_321t4:c.899_915dup
LRG_321t5:c.503_519dup
LRG_321t6:c.503_519dup
LRG_321t7:c.503_519dup
LRG_321t8:c.782_798dup
LRG_321:g.18831_18847dup
LRG_321:p.Arg306Profs
LRG_321p1:p.Arg306Profs
LRG_321p3:p.Arg306Profs
LRG_321p4:p.Arg306Profs
LRG_321p5:p.Arg174Profs
LRG_321p6:p.Arg174Profs
LRG_321p7:p.Arg174Profs
LRG_321p8:p.Arg267Profs
NC_000017.10:g.7577023_7577039dup
NM_000546.5:c.899_915dup
NM_001126112.2:c.899_915dup
NM_001126113.2:c.899_915dup
NM_001126114.2:c.899_915dup
NM_001126115.1:c.503_519dup
NM_001126116.1:c.503_519dup
NM_001126117.1:c.503_519dup
NM_001126118.1:c.782_798dup
NR_176326.1:n.929_945dup

Protein change:

R147fs

Molecular consequence:

NM_000546.6:c.900_916dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126112.3:c.900_916dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126113.3:c.900_916dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126114.3:c.900_916dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126115.2:c.504_520dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126116.2:c.504_520dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126117.2:c.504_520dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126118.2:c.783_799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276695.3:c.783_799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276696.3:c.783_799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276697.3:c.423_439dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276698.3:c.423_439dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276699.3:c.423_439dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276760.3:c.783_799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276761.3:c.783_799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407262.1:c.900_916dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407263.1:c.783_799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407264.1:c.900_916dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407265.1:c.783_799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407266.1:c.900_916dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407267.1:c.783_799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407268.1:c.900_916dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407269.1:c.783_799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407270.1:c.900_916dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407271.1:c.783_799dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_176326.1:n.929_945dup - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004930770	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

SCV004930770

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., SCV004930770.1

#	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

ClinVar

Relating variation to medicine