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NM_000546.6(TP53):c.349G>C (p.Gly117Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 6, 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:
RCV003339855.2

Allele description [Variation Report for NM_000546.6(TP53):c.349G>C (p.Gly117Arg)]

NM_000546.6(TP53):c.349G>C (p.Gly117Arg)

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.349G>C (p.Gly117Arg)
HGVS:
  • NC_000017.11:g.7676020C>G
  • NG_017013.2:g.16531G>C
  • NM_000546.4:c.349G>C
  • NM_000546.6:c.349G>CMANE SELECT
  • NM_001126112.3:c.349G>C
  • NM_001126113.3:c.349G>C
  • NM_001126114.3:c.349G>C
  • NM_001126118.2:c.232G>C
  • NM_001276695.3:c.232G>C
  • NM_001276696.3:c.232G>C
  • NM_001276760.3:c.232G>C
  • NM_001276761.3:c.232G>C
  • NP_000537.3:p.Gly117Arg
  • NP_001119584.1:p.Gly117Arg
  • NP_001119585.1:p.Gly117Arg
  • NP_001119586.1:p.Gly117Arg
  • NP_001119590.1:p.Gly78Arg
  • NP_001263624.1:p.Gly78Arg
  • NP_001263625.1:p.Gly78Arg
  • NP_001263689.1:p.Gly78Arg
  • NP_001263690.1:p.Gly78Arg
  • LRG_321:g.16531G>C
  • NC_000017.10:g.7579338C>G
Protein change:
G117R
Links:
dbSNP: rs1555526518
NCBI 1000 Genomes Browser:
rs1555526518
Molecular consequence:
  • NM_000546.6:c.349G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.349G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.349G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.349G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.232G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.232G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.232G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.232G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.232G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004058542Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 6, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.

Kato S, Han SY, Liu W, Otsuka K, Shibata H, Kanamaru R, Ishioka C.

Proc Natl Acad Sci U S A. 2003 Jul 8;100(14):8424-9. Epub 2003 Jun 25.

PubMed [citation]
PMID:
12826609
PMCID:
PMC166245

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
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV004058542.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.G117R variant (also known as c.349G>C), located in coding exon 3 of the TP53 gene, results from a G to C substitution at nucleotide position 349. The glycine at codon 117 is replaced by arginine, an amino acid with dissimilar properties. This variant is in the DNA binding domain of the TP53 protein and is reported to have partially functional transactivation in yeast based assays (Kato S et al. Proc. Natl. Acad. Sci. USA. 2003 Jul;100:8424-9). Studies conducted in human cell lines are equivocal about this variant's ability to suppress cell growth (Kotler E et al. Mol.Cell. 2018 Jul;71:178-190.e8; Giacomelli AO et al. Nat. Genet. 2018 Oct;50:1381-1387). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024