NM_000546.5(TP53):c.604C>G (p.Arg202Gly) AND Hereditary cancer-predisposing syndrome

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Apr 18, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000218191.2

Allele description [Variation Report for NM_000546.5(TP53):c.604C>G (p.Arg202Gly)]

NM_000546.5(TP53):c.604C>G (p.Arg202Gly)

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.604C>G (p.Arg202Gly)
HGVS:
  • NC_000017.11:g.7674927G>C
  • NG_017013.2:g.17624C>G
  • NM_000546.5:c.604C>G
  • NM_001126112.2:c.604C>G
  • NM_001126113.2:c.604C>G
  • NM_001126114.2:c.604C>G
  • NM_001126115.1:c.208C>G
  • NM_001126116.1:c.208C>G
  • NM_001126117.1:c.208C>G
  • NM_001126118.1:c.487C>G
  • NM_001276695.2:c.487C>G
  • NM_001276696.2:c.487C>G
  • NM_001276697.2:c.127C>G
  • NM_001276698.2:c.127C>G
  • NM_001276699.2:c.127C>G
  • NM_001276760.2:c.487C>G
  • NM_001276761.2:c.487C>G
  • NP_000537.3:p.Arg202Gly
  • NP_001119584.1:p.Arg202Gly
  • NP_001119585.1:p.Arg202Gly
  • NP_001119586.1:p.Arg202Gly
  • NP_001119587.1:p.Arg70Gly
  • NP_001119588.1:p.Arg70Gly
  • NP_001119589.1:p.Arg70Gly
  • NP_001119590.1:p.Arg163Gly
  • NP_001263624.1:p.Arg163Gly
  • NP_001263625.1:p.Arg163Gly
  • NP_001263626.1:p.Arg43Gly
  • NP_001263627.1:p.Arg43Gly
  • NP_001263628.1:p.Arg43Gly
  • NP_001263689.1:p.Arg163Gly
  • NP_001263690.1:p.Arg163Gly
  • LRG_321t1:c.604C>G
  • LRG_321t2:c.604C>G
  • LRG_321t3:c.604C>G
  • LRG_321t4:c.604C>G
  • LRG_321t5:c.208C>G
  • LRG_321t6:c.208C>G
  • LRG_321t7:c.208C>G
  • LRG_321t8:c.487C>G
  • LRG_321:g.17624C>G
  • LRG_321:p.Arg202Gly
  • LRG_321p1:p.Arg202Gly
  • LRG_321p3:p.Arg202Gly
  • LRG_321p4:p.Arg202Gly
  • LRG_321p5:p.Arg70Gly
  • LRG_321p6:p.Arg70Gly
  • LRG_321p7:p.Arg70Gly
  • LRG_321p8:p.Arg163Gly
  • NC_000017.10:g.7578245G>C
  • NM_000546.4:c.604C>G
  • P04637:p.Arg202Gly
Protein change:
R163G
Links:
UniProtKB: P04637#VAR_045031; dbSNP: rs587780072
NCBI 1000 Genomes Browser:
rs587780072
Molecular consequence:
  • NM_000546.5:c.604C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.2:c.604C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.2:c.604C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.2:c.604C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.1:c.208C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.1:c.208C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.1:c.208C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.1:c.487C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.2:c.487C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.2:c.487C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.2:c.127C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.2:c.127C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.2:c.127C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.2:c.487C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.2:c.487C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000275574Ambry Geneticscriteria provided, single submitter
Likely benign
(Jun 2, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV001358906Color Health, Inccriteria provided, single submitter
Uncertain significance
(Apr 18, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

TP53 germline mutations in adult patients with adrenocortical carcinoma.

Herrmann LJ, Heinze B, Fassnacht M, Willenberg HS, Quinkler M, Reisch N, Zink M, Allolio B, Hahner S.

J Clin Endocrinol Metab. 2012 Mar;97(3):E476-85. doi: 10.1210/jc.2011-1982. Epub 2011 Dec 14.

PubMed [citation]
PMID:
22170717

Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history.

de Andrade KC, Mirabello L, Stewart DR, Karlins E, Koster R, Wang M, Gapstur SM, Gaudet MM, Freedman ND, Landi MT, Lemonnier N, Hainaut P, Savage SA, Achatz MI.

Hum Mutat. 2017 Dec;38(12):1723-1730. doi: 10.1002/humu.23320. Epub 2017 Sep 21.

PubMed [citation]
PMID:
28861920
PMCID:
PMC6858060
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000275574.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

In silico models in agreement (benign);Other data supporting benign classification

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color Health, Inc, SCV001358906.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 3, 2021

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