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NM_000546.6(TP53):c.338T>C (p.Phe113Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 3, 2019
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:
RCV001020171.4

Allele description [Variation Report for NM_000546.6(TP53):c.338T>C (p.Phe113Ser)]

NM_000546.6(TP53):c.338T>C (p.Phe113Ser)

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.338T>C (p.Phe113Ser)
HGVS:
  • NC_000017.11:g.7676031A>G
  • NG_017013.2:g.16520T>C
  • NM_000546.6:c.338T>CMANE SELECT
  • NM_001126112.3:c.338T>C
  • NM_001126113.3:c.338T>C
  • NM_001126114.3:c.338T>C
  • NM_001126118.2:c.221T>C
  • NM_001276695.3:c.221T>C
  • NM_001276696.3:c.221T>C
  • NM_001276760.3:c.221T>C
  • NM_001276761.3:c.221T>C
  • NP_000537.3:p.Phe113Ser
  • NP_001119584.1:p.Phe113Ser
  • NP_001119585.1:p.Phe113Ser
  • NP_001119586.1:p.Phe113Ser
  • NP_001119590.1:p.Phe74Ser
  • NP_001263624.1:p.Phe74Ser
  • NP_001263625.1:p.Phe74Ser
  • NP_001263689.1:p.Phe74Ser
  • NP_001263690.1:p.Phe74Ser
  • LRG_321:g.16520T>C
  • NC_000017.10:g.7579349A>G
  • NM_000546.4:c.338T>C
Protein change:
F113S
Links:
dbSNP: rs1567555667
NCBI 1000 Genomes Browser:
rs1567555667
Molecular consequence:
  • NM_000546.6:c.338T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.338T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.338T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.338T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.221T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.221T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.221T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.221T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.221T>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
SCV001181614Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 3, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV001181614.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.F113S variant (also known as c.338T>C), located in coding exon 3 of the TP53 gene, results from a T to C substitution at nucleotide position 338. The phenylalanine at codon 113 is replaced by serine, an amino acid with highly dissimilar properties. This variant is in the DNA binding domain of the TP53 protein and is reported to have loss of transactivation in yeast based assays (IARC TP53 database: Kato S et al. Proc. Natl. Acad. Sci. USA 2003 Jul;100:8424-9). Studies conducted in human cell lines indicate this alteration is deficient at growth suppression (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 highly 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: May 1, 2024