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NM_000546.6(TP53):c.373A>C (p.Thr125Pro) AND Li-Fraumeni syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 13, 2024
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:
RCV004022243.1

Allele description [Variation Report for NM_000546.6(TP53):c.373A>C (p.Thr125Pro)]

NM_000546.6(TP53):c.373A>C (p.Thr125Pro)

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.373A>C (p.Thr125Pro)
HGVS:
  • NC_000017.11:g.7675996T>G
  • NG_017013.2:g.16555A>C
  • NM_000546.4:c.373A>C
  • NM_000546.6:c.373A>CMANE SELECT
  • NM_001126112.3:c.373A>C
  • NM_001126113.3:c.373A>C
  • NM_001126114.3:c.373A>C
  • NM_001126118.2:c.256A>C
  • NM_001276695.3:c.256A>C
  • NM_001276696.3:c.256A>C
  • NM_001276760.3:c.256A>C
  • NM_001276761.3:c.256A>C
  • NP_000537.3:p.Thr125Pro
  • NP_000537.3:p.Thr125Pro
  • NP_001119584.1:p.Thr125Pro
  • NP_001119585.1:p.Thr125Pro
  • NP_001119586.1:p.Thr125Pro
  • NP_001119590.1:p.Thr86Pro
  • NP_001263624.1:p.Thr86Pro
  • NP_001263625.1:p.Thr86Pro
  • NP_001263689.1:p.Thr86Pro
  • NP_001263690.1:p.Thr86Pro
  • LRG_321t1:c.373A>C
  • LRG_321:g.16555A>C
  • LRG_321p1:p.Thr125Pro
  • NC_000017.10:g.7579314T>G
  • NM_000546.5:c.373A>C
  • NM_000546.6:c.373A>C
Protein change:
T125P
Links:
dbSNP: rs1057520003
NCBI 1000 Genomes Browser:
rs1057520003
Molecular consequence:
  • NM_000546.6:c.373A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.373A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.373A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.373A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.256A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.256A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.256A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.256A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.256A>C - 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
SCV004933432Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely pathogenic
(Feb 13, 2024) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

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

Details of each submission

From Myriad Genetics, Inc., SCV004933432.1

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

Description

This variant is considered likely pathogenic. This variant is expected to disrupt protein structure [Myriad internal data]. Functional studies indicate this variant impacts protein function [PMID: 29979965].

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

Last Updated: Oct 20, 2024