NM_000546.6(TP53):c.847C>T (p.Arg283Cys) AND Li-Fraumeni syndrome 1

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jan 1, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000238755.11

Allele description [Variation Report for NM_000546.6(TP53):c.847C>T (p.Arg283Cys)]

NM_000546.6(TP53):c.847C>T (p.Arg283Cys)

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.847C>T (p.Arg283Cys)

Other names:

p.R283C:CGC>TGC

HGVS:

NC_000017.11:g.7673773G>A
NG_017013.2:g.18778C>T
NM_000546.6:c.847C>TMANE SELECT
NM_001126112.3:c.847C>T
NM_001126113.3:c.847C>T
NM_001126114.3:c.847C>T
NM_001126115.2:c.451C>T
NM_001126116.2:c.451C>T
NM_001126117.2:c.451C>T
NM_001126118.2:c.730C>T
NM_001276695.3:c.730C>T
NM_001276696.3:c.730C>T
NM_001276697.3:c.370C>T
NM_001276698.3:c.370C>T
NM_001276699.3:c.370C>T
NM_001276760.3:c.730C>T
NM_001276761.3:c.730C>T
NP_000537.3:p.Arg283Cys
NP_000537.3:p.Arg283Cys
NP_001119584.1:p.Arg283Cys
NP_001119584.1:p.Arg283Cys
NP_001119585.1:p.Arg283Cys
NP_001119586.1:p.Arg283Cys
NP_001119586.1:p.Arg283Cys
NP_001119587.1:p.Arg151Cys
NP_001119588.1:p.Arg151Cys
NP_001119589.1:p.Arg151Cys
NP_001119590.1:p.Arg244Cys
NP_001263624.1:p.Arg244Cys
NP_001263625.1:p.Arg244Cys
NP_001263626.1:p.Arg124Cys
NP_001263627.1:p.Arg124Cys
NP_001263628.1:p.Arg124Cys
NP_001263689.1:p.Arg244Cys
NP_001263690.1:p.Arg244Cys
LRG_321t1:c.847C>T
LRG_321t2:c.847C>T
LRG_321t3:c.847C>T
LRG_321:g.18778C>T
LRG_321:p.Arg283Cys
LRG_321p1:p.Arg283Cys
LRG_321p3:p.Arg283Cys
NC_000017.10:g.7577091G>A
NM_000546.4:c.847C>T
NM_000546.5(TP53):c.847C>T
NM_000546.5:c.847C>T
NM_001126112.2:c.847C>T
NM_001126114.2:c.847C>T
P04637:p.Arg283Cys
p.R283C

Protein change:

R124C

Links:

UniProtKB: P04637#VAR_006017; dbSNP: rs149633775

NCBI 1000 Genomes Browser:

rs149633775

Molecular consequence:

NM_000546.6:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.451C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.451C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.451C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.730C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.730C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.730C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.370C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.370C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.370C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.730C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.730C>T - 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
SCV000297015	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	criteria provided, single submitter (DGD Variant Analysis Guidelines)	Uncertain significance (Aug 19, 2015)	unknown	clinical testing	DGD_Variant_Analysis_Guidelines.docx, Citation Link,
SCV001440887	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 1, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000297015

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

criteria provided, single submitter

(DGD Variant Analysis Guidelines)

Uncertain significance
(Aug 19, 2015)

unknown

clinical testing

DGD_Variant_Analysis_Guidelines.docx,

Citation Link,

SCV001440887

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 1, 2019)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000297015.3

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

#	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

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001440887.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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