NM_000546.6(TP53):c.535C>G (p.His179Asp) AND Li-Fraumeni syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 13, 2023
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:: RCV003335320.2

Allele description [Variation Report for NM_000546.6(TP53):c.535C>G (p.His179Asp)]

NM_000546.6(TP53):c.535C>G (p.His179Asp)

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.535C>G (p.His179Asp)

HGVS:

NC_000017.11:g.7675077G>C
NG_017013.2:g.17474C>G
NM_000546.6:c.535C>GMANE SELECT
NM_001126112.3:c.535C>G
NM_001126113.3:c.535C>G
NM_001126114.3:c.535C>G
NM_001126115.2:c.139C>G
NM_001126116.2:c.139C>G
NM_001126117.2:c.139C>G
NM_001126118.2:c.418C>G
NM_001276695.3:c.418C>G
NM_001276696.3:c.418C>G
NM_001276697.3:c.58C>G
NM_001276698.3:c.58C>G
NM_001276699.3:c.58C>G
NM_001276760.3:c.418C>G
NM_001276761.3:c.418C>G
NP_000537.3:p.His179Asp
NP_001119584.1:p.His179Asp
NP_001119585.1:p.His179Asp
NP_001119586.1:p.His179Asp
NP_001119587.1:p.His47Asp
NP_001119588.1:p.His47Asp
NP_001119589.1:p.His47Asp
NP_001119590.1:p.His140Asp
NP_001263624.1:p.His140Asp
NP_001263625.1:p.His140Asp
NP_001263626.1:p.His20Asp
NP_001263627.1:p.His20Asp
NP_001263628.1:p.His20Asp
NP_001263689.1:p.His140Asp
NP_001263690.1:p.His140Asp
LRG_321:g.17474C>G
NC_000017.10:g.7578395G>C
NM_000546.4:c.535C>G
NM_000546.6:c.535C>G

Protein change:

H140D

Links:

dbSNP: rs587780070

NCBI 1000 Genomes Browser:

rs587780070

Molecular consequence:

NM_000546.6:c.535C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.535C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.535C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.535C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.139C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.139C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.139C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.418C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.418C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.418C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.58C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.58C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.58C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.418C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.418C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004045022	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Jun 13, 2023)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 29979965, 21590121, 29070607, 32658383 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004045022

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Jun 13, 2023)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

De novo germline mutations of the p53 gene in young children with sarcomas.

Ayan I, Luca J, Jaffe N, Strong L, Hansen M.

Oncol Rep. 1997 Jul-Aug;4(4):679-83.

PubMed [citation]

PMID:: 21590121

See all PubMed Citations (4)

Details of each submission

From Myriad Genetics, Inc., SCV004045022.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This variant is considered pathogenic. Functional studies indicate this variant impacts protein function [PMID: 29979965]. This variant is expected to disrupt protein structure [Myriad internal data]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 21590121, 29070607, 32658383].

#	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

ClinVar

Relating variation to medicine