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NM_000546.6(TP53):c.655C>T (p.Pro219Ser) AND Li-Fraumeni syndrome 1

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Apr 11, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000576805.6

Allele description [Variation Report for NM_000546.6(TP53):c.655C>T (p.Pro219Ser)]

NM_000546.6(TP53):c.655C>T (p.Pro219Ser)

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.655C>T (p.Pro219Ser)
HGVS:
  • NC_000017.11:g.7674876G>A
  • NG_017013.2:g.17675C>T
  • NM_000546.6:c.655C>TMANE SELECT
  • NM_001126112.3:c.655C>T
  • NM_001126113.3:c.655C>T
  • NM_001126114.3:c.655C>T
  • NM_001126115.2:c.259C>T
  • NM_001126116.2:c.259C>T
  • NM_001126117.2:c.259C>T
  • NM_001126118.2:c.538C>T
  • NM_001276695.3:c.538C>T
  • NM_001276696.3:c.538C>T
  • NM_001276697.3:c.178C>T
  • NM_001276698.3:c.178C>T
  • NM_001276699.3:c.178C>T
  • NM_001276760.3:c.538C>T
  • NM_001276761.3:c.538C>T
  • NP_000537.3:p.Pro219Ser
  • NP_000537.3:p.Pro219Ser
  • NP_001119584.1:p.Pro219Ser
  • NP_001119585.1:p.Pro219Ser
  • NP_001119586.1:p.Pro219Ser
  • NP_001119587.1:p.Pro87Ser
  • NP_001119588.1:p.Pro87Ser
  • NP_001119589.1:p.Pro87Ser
  • NP_001119590.1:p.Pro180Ser
  • NP_001263624.1:p.Pro180Ser
  • NP_001263625.1:p.Pro180Ser
  • NP_001263626.1:p.Pro60Ser
  • NP_001263627.1:p.Pro60Ser
  • NP_001263628.1:p.Pro60Ser
  • NP_001263689.1:p.Pro180Ser
  • NP_001263690.1:p.Pro180Ser
  • LRG_321t1:c.655C>T
  • LRG_321:g.17675C>T
  • LRG_321p1:p.Pro219Ser
  • NC_000017.10:g.7578194G>A
  • NM_000546.4:c.655C>T
  • NM_000546.5:c.655C>T
  • P04637:p.Pro219Ser
Protein change:
P180S
Links:
UniProtKB: P04637#VAR_045114; dbSNP: rs879253894
NCBI 1000 Genomes Browser:
rs879253894
Molecular consequence:
  • NM_000546.6:c.655C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.655C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.655C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.655C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.259C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.2:c.259C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.2:c.259C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.538C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.538C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.538C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.178C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.3:c.178C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.3:c.178C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.538C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.538C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Li-Fraumeni syndrome 1 (LFS)
Identifiers:
Gene: 553989; MedGen: C1835398; Orphanet: 524; OMIM: 151623

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000677775Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Likely pathogenic
(Dec 28, 2016) 		unknownclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Citation Link,

SCV004017877Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Uncertain significance
(Apr 11, 2023) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.

Wasserman JD, Novokmet A, Eichler-Jonsson C, Ribeiro RC, Rodriguez-Galindo C, Zambetti GP, Malkin D.

J Clin Oncol. 2015 Feb 20;33(6):602-9. doi: 10.1200/JCO.2013.52.6863. Epub 2015 Jan 12.

PubMed [citation]
PMID:
25584008
PMCID:
PMC4517369

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
See all PubMed Citations (10)

Details of each submission

From Counsyl, SCV000677775.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Myriad Genetics, Inc., SCV004017877.1

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

Description

This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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

Last Updated: Sep 29, 2024