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NM_000546.6(TP53):c.37C>T (p.Pro13Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 11, 2018
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:
RCV000478642.3

Allele description [Variation Report for NM_000546.6(TP53):c.37C>T (p.Pro13Ser)]

NM_000546.6(TP53):c.37C>T (p.Pro13Ser)

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.37C>T (p.Pro13Ser)
Other names:
NM_000546.5(TP53):c.37C>T; p.Pro13Ser
HGVS:
  • NC_000017.11:g.7676558G>A
  • NG_017013.2:g.15993C>T
  • NM_000546.6:c.37C>TMANE SELECT
  • NM_001126112.3:c.37C>T
  • NM_001126113.3:c.37C>T
  • NM_001126114.3:c.37C>T
  • NM_001126118.2:c.-198C>T
  • NM_001276695.3:c.-81C>T
  • NM_001276696.3:c.-81C>T
  • NM_001276760.3:c.-81C>T
  • NM_001276761.3:c.-81C>T
  • NP_000537.3:p.Pro13Ser
  • NP_000537.3:p.Pro13Ser
  • NP_001119584.1:p.Pro13Ser
  • NP_001119585.1:p.Pro13Ser
  • NP_001119586.1:p.Pro13Ser
  • LRG_321t1:c.37C>T
  • LRG_321:g.15993C>T
  • LRG_321p1:p.Pro13Ser
  • NC_000017.10:g.7579876G>A
  • NM_000546.4:c.37C>T
  • NM_000546.5:c.37C>T
Protein change:
P13S
Links:
dbSNP: rs1060501208
NCBI 1000 Genomes Browser:
rs1060501208
Molecular consequence:
  • NM_001126118.2:c.-198C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276695.3:c.-81C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276696.3:c.-81C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276760.3:c.-81C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276761.3:c.-81C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000546.6:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000567854GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 11, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000567854.3

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

Description

This variant is denoted TP53 c.37C>T at the cDNA level, p.Pro13Ser (P13S) at the protein level, and results in the change of a Proline to a Serine (CCT>TCT). This variant has been observed as a somatic variant in a cutaneous squamous cell carcinoma metastasis specimen (Li 2015). This variant is reported as having functional transactivation in the International Agency for Research on Cancer TP53 database based on functional assays by Kato et al. (2003). TP53 Pro13Ser was not observed at a significant allele frequency in large population cohorts (Lek 2016). Since Proline and Serine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. TP53 Pro13Ser is located in the transactivation domain and in a nuclear export signal (Pessoa 2014, Bode 2004, Zhang 2001). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available information, it is unclear whether TP53 Pro13Ser is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: May 16, 2025