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NM_000546.6(TP53):c.358A>G (p.Lys120Glu) 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:
RCV004019730.1

Allele description [Variation Report for NM_000546.6(TP53):c.358A>G (p.Lys120Glu)]

NM_000546.6(TP53):c.358A>G (p.Lys120Glu)

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.358A>G (p.Lys120Glu)
Other names:
p.K120E:AAG>GAG
HGVS:
  • NC_000017.11:g.7676011T>C
  • NG_017013.2:g.16540A>G
  • NM_000546.6:c.358A>GMANE SELECT
  • NM_001126112.3:c.358A>G
  • NM_001126113.3:c.358A>G
  • NM_001126114.3:c.358A>G
  • NM_001126118.2:c.241A>G
  • NM_001276695.3:c.241A>G
  • NM_001276696.3:c.241A>G
  • NM_001276760.3:c.241A>G
  • NM_001276761.3:c.241A>G
  • NP_000537.3:p.Lys120Glu
  • NP_000537.3:p.Lys120Glu
  • NP_001119584.1:p.Lys120Glu
  • NP_001119585.1:p.Lys120Glu
  • NP_001119586.1:p.Lys120Glu
  • NP_001119590.1:p.Lys81Glu
  • NP_001263624.1:p.Lys81Glu
  • NP_001263625.1:p.Lys81Glu
  • NP_001263689.1:p.Lys81Glu
  • NP_001263690.1:p.Lys81Glu
  • LRG_321t1:c.358A>G
  • LRG_321:g.16540A>G
  • LRG_321p1:p.Lys120Glu
  • NC_000017.10:g.7579329T>C
  • NM_000546.4:c.358A>G
  • NM_000546.5:c.358A>G
  • P04637:p.Lys120Glu
  • p.K120E
Protein change:
K120E
Links:
UniProtKB: P04637#VAR_044699; dbSNP: rs121912658
NCBI 1000 Genomes Browser:
rs121912658
Molecular consequence:
  • NM_000546.6:c.358A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.358A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.358A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.358A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.241A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.241A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.241A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.241A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.241A>G - 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
SCV004932429Myriad 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 (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Oligomerization of BAK by p53 utilizes conserved residues of the p53 DNA binding domain.

Pietsch EC, Perchiniak E, Canutescu AA, Wang G, Dunbrack RL, Murphy ME.

J Biol Chem. 2008 Jul 25;283(30):21294-304. doi: 10.1074/jbc.M710539200. Epub 2008 Jun 4.

PubMed [citation]
PMID:
18524770
PMCID:
PMC2475706

The DNA-binding domain mediates both nuclear and cytosolic functions of p53.

Follis AV, Llambi F, Ou L, Baran K, Green DR, Kriwacki RW.

Nat Struct Mol Biol. 2014 Jun;21(6):535-43. doi: 10.1038/nsmb.2829. Epub 2014 May 11.

PubMed [citation]
PMID:
24814347
PMCID:
PMC4134560
See all PubMed Citations (3)

Details of each submission

From Myriad Genetics, Inc., SCV004932429.1

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

Description

This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 18524770, 24814347, 29979965].

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

Last Updated: Nov 10, 2024