NM_000546.5(TP53):c.1010G>A (p.Arg337His) AND Hereditary cancer-predisposing syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 26, 2016
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:: RCV000128923.4

Allele description

NM_000546.5(TP53):c.1010G>A (p.Arg337His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.5(TP53):c.1010G>A (p.Arg337His)

HGVS:

NC_000017.11:g.7670699C>T
NG_017013.2:g.21852G>A
NM_000546.5:c.1010G>A
NM_001126112.2:c.1010G>A
NM_001126113.2:c.*29G>A
NM_001126114.2:c.*117G>A
NM_001126115.1:c.614G>A
NM_001126116.1:c.*117G>A
NM_001126117.1:c.*29G>A
NM_001126118.1:c.893G>A
NP_000537.3:p.Arg337His
NP_001119584.1:p.Arg337His
NP_001119587.1:p.Arg205His
NP_001119590.1:p.Arg298His
LRG_321t1:c.1010G>A
LRG_321t2:c.1010G>A
LRG_321t3:c.*117G>A
LRG_321t4:c.*29G>A
LRG_321t5:c.614G>A
LRG_321t6:c.*117G>A
LRG_321t7:c.*29G>A
LRG_321t8:c.893G>A
LRG_321:g.21852G>A
LRG_321p1:p.Arg337His
LRG_321p5:p.Arg205His
LRG_321p8:p.Arg298His
NC_000017.10:g.7574017C>T
NM_000546.4:c.1010G>A
P04637:p.Arg337His
p.R337H

Protein change:

R205H; ARG337HIS

Links:

UniProtKB: P04637#VAR_035016; OMIM: 191170.0035; dbSNP: rs121912664

NCBI 1000 Genomes Browser:

rs121912664

Allele Frequency:

0.00001(T)

Molecular consequence:

NM_001126113.2:c.*29G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000546.5:c.1010G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:: MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000172792	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Pathogenic (Oct 26, 2016)	germline	clinical testing	PubMed (14) [See all records that cite these PMIDs] 16494995, 11753428, 18248785, 11481490, 19877175, 23570263, 24936644, 26681051, 27553368, 27081505, 25945745, 24784157, 25736369, 26823150 Citation Link,
SCV000537678	Color	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 21, 2015)	germline	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

SCV000172792

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Pathogenic
(Oct 26, 2016)

germline

clinical testing

PubMed (14)
[See all records that cite these PMIDs]

Citation Link,

SCV000537678

Color

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 21, 2015)

germline

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	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.

Achatz MI, Olivier M, Le Calvez F, Martel-Planche G, Lopes A, Rossi BM, Ashton-Prolla P, Giugliani R, Palmero EI, Vargas FR, Da Rocha JC, Vettore AL, Hainaut P.

Cancer Lett. 2007 Jan 8;245(1-2):96-102. Epub 2006 Feb 21.

PubMed [citation]

PMID:: 16494995

A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer.

DiGiammarino EL, Lee AS, Cadwell C, Zhang W, Bothner B, Ribeiro RC, Zambetti G, Kriwacki RW.

Nat Struct Biol. 2002 Jan;9(1):12-6.

PubMed [citation]

PMID:: 11753428

See all PubMed Citations (15)

Details of each submission

From Ambry Genetics, SCV000172792.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (14)

Description

Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Other data supporting pathogenic classification,Deficient protein function in appropriate functional assay(s),Other strong data supporting pathogenic classification

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

From Color, SCV000537678.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 10, 2018

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