NM_000546.5(TP53):c.847C>T (p.Arg283Cys) AND Hereditary cancer-predisposing syndrome

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

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Aug 29, 2017
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:: RCV000115739.9

Allele description

NM_000546.5(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_000546.5(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_000546.5:c.847C>T
NM_001126112.2:c.847C>T
NM_001126113.2:c.847C>T
NM_001126114.2:c.847C>T
NM_001126115.1:c.451C>T
NM_001126116.1:c.451C>T
NM_001126117.1:c.451C>T
NM_001126118.1:c.730C>T
NP_000537.3:p.Arg283Cys
NP_001119584.1:p.Arg283Cys
NP_001119585.1: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
LRG_321t1:c.847C>T
LRG_321t2:c.847C>T
LRG_321t3:c.847C>T
LRG_321t4:c.847C>T
LRG_321t5:c.451C>T
LRG_321t6:c.451C>T
LRG_321t7:c.451C>T
LRG_321t8:c.730C>T
LRG_321:g.18778C>T
LRG_321p1:p.Arg283Cys
LRG_321p3:p.Arg283Cys
LRG_321p4:p.Arg283Cys
LRG_321p5:p.Arg151Cys
LRG_321p6:p.Arg151Cys
LRG_321p7:p.Arg151Cys
LRG_321p8:p.Arg244Cys
NC_000017.10:g.7577091G>A
NM_000546.4:c.847C>T
P04637:p.Arg283Cys
p.R283C

Protein change:

R151C

Links:

UniProtKB: P04637#VAR_006017; dbSNP: rs149633775

NCBI 1000 Genomes Browser:

rs149633775

Allele Frequency:

0.00012(A)

Molecular consequence:

NM_000546.5:c.847C>T - 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
SCV000183772	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (3/2017))	Uncertain significance (Aug 29, 2017)	germline	clinical testing	PubMed (13) [See all records that cite these PMIDs] 19367569, 24728327, 11793474, 23894400, 17224268, 16487937, 19714488, 25637381, 26086041, 15173255, 21343334, 21761402, 12826609 Citation Link,
SCV000686778	Color	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 31, 2017)	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

SCV000183772

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))

Uncertain significance
(Aug 29, 2017)

germline

clinical testing

PubMed (13)
[See all records that cite these PMIDs]

Citation Link,

SCV000686778

Color

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 31, 2017)

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

Li-Fraumeni and Li-Fraumeni-like syndrome mutations in p53 are associated with exonic methylation and splicing regulatory elements.

Kouidou S, Malousi A, Maglaveras N.

Mol Carcinog. 2009 Oct;48(10):895-902. doi: 10.1002/mc.20537.

PubMed [citation]

PMID:: 19367569

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]

PMID:: 24728327
PMCID:: PMC3984285

See all PubMed Citations (14)

Details of each submission

From Ambry Genetics, SCV000183772.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (13)

Description

Lines of evidence used in support of classification: Insufficient or conflicting evidence

#	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, SCV000686778.1

#	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: Sep 25, 2018

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