NM_000546.6(TP53):c.715A>G (p.Asn239Asp) AND Li-Fraumeni syndrome 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 16, 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:: RCV004020697.1

Allele description [Variation Report for NM_000546.6(TP53):c.715A>G (p.Asn239Asp)]

NM_000546.6(TP53):c.715A>G (p.Asn239Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.715A>G (p.Asn239Asp)

HGVS:

NC_000017.11:g.7674248T>C
NG_017013.2:g.18303A>G
NM_000546.6:c.715A>GMANE SELECT
NM_001126112.3:c.715A>G
NM_001126113.3:c.715A>G
NM_001126114.3:c.715A>G
NM_001126115.2:c.319A>G
NM_001126116.2:c.319A>G
NM_001126117.2:c.319A>G
NM_001126118.2:c.598A>G
NM_001276695.3:c.598A>G
NM_001276696.3:c.598A>G
NM_001276697.3:c.238A>G
NM_001276698.3:c.238A>G
NM_001276699.3:c.238A>G
NM_001276760.3:c.598A>G
NM_001276761.3:c.598A>G
NP_000537.3:p.Asn239Asp
NP_000537.3:p.Asn239Asp
NP_001119584.1:p.Asn239Asp
NP_001119585.1:p.Asn239Asp
NP_001119586.1:p.Asn239Asp
NP_001119587.1:p.Asn107Asp
NP_001119588.1:p.Asn107Asp
NP_001119589.1:p.Asn107Asp
NP_001119590.1:p.Asn200Asp
NP_001263624.1:p.Asn200Asp
NP_001263625.1:p.Asn200Asp
NP_001263626.1:p.Asn80Asp
NP_001263627.1:p.Asn80Asp
NP_001263628.1:p.Asn80Asp
NP_001263689.1:p.Asn200Asp
NP_001263690.1:p.Asn200Asp
LRG_321t1:c.715A>G
LRG_321:g.18303A>G
LRG_321p1:p.Asn239Asp
NC_000017.10:g.7577566T>C
NM_000546.4:c.715A>G
NM_000546.5:c.715A>G
P04637:p.Asn239Asp

Protein change:

N107D

Links:

UniProtKB: P04637#VAR_045204; dbSNP: rs876660807

NCBI 1000 Genomes Browser:

rs876660807

Molecular consequence:

NM_000546.6:c.715A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.715A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.715A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.715A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.319A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.319A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.319A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.238A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.238A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.238A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.598A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004932639	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Likely pathogenic (Feb 16, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004932639

Myriad Genetics, Inc.

criteria provided, single submitter

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

Likely pathogenic
(Feb 16, 2024)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation.

Kotler E, Shani O, Goldfeld G, Lotan-Pompan M, Tarcic O, Gershoni A, Hopf TA, Marks DS, Oren M, Segal E.

Mol Cell. 2018 Jul 5;71(1):178-190.e8. doi: 10.1016/j.molcel.2018.06.012. Erratum in: Mol Cell. 2018 Sep 6;71(5):873. doi: 10.1016/j.molcel.2018.08.013.

PubMed [citation]

PMID:: 29979965

Details of each submission

From Myriad Genetics, Inc., SCV004932639.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [29979965]. This variant is expected to disrupt protein structure [Myriad internal data].

#	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: Sep 29, 2024

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