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NM_000546.6(TP53):c.4G>A (p.Glu2Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 24, 2020
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:
RCV001755968.3

Allele description [Variation Report for NM_000546.6(TP53):c.4G>A (p.Glu2Lys)]

NM_000546.6(TP53):c.4G>A (p.Glu2Lys)

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.4G>A (p.Glu2Lys)
HGVS:
  • NC_000017.11:g.7676591C>T
  • NG_017013.2:g.15960G>A
  • NM_000546.6:c.4G>AMANE SELECT
  • NM_001126112.3:c.4G>A
  • NM_001126113.3:c.4G>A
  • NM_001126114.3:c.4G>A
  • NM_001126118.2:c.-231G>A
  • NM_001276695.3:c.-114G>A
  • NM_001276696.3:c.-114G>A
  • NM_001276760.3:c.-114G>A
  • NM_001276761.3:c.-114G>A
  • NP_000537.3:p.Glu2Lys
  • NP_000537.3:p.Glu2Lys
  • NP_001119584.1:p.Glu2Lys
  • NP_001119585.1:p.Glu2Lys
  • NP_001119586.1:p.Glu2Lys
  • LRG_321t1:c.4G>A
  • LRG_321:g.15960G>A
  • LRG_321p1:p.Glu2Lys
  • NC_000017.10:g.7579909C>T
  • NM_000546.4:c.4G>A
  • NM_000546.5:c.4G>A
Protein change:
E2K
Links:
dbSNP: rs769884991
NCBI 1000 Genomes Browser:
rs769884991
Molecular consequence:
  • NM_001126118.2:c.-231G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276695.3:c.-114G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276696.3:c.-114G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276760.3:c.-114G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276761.3:c.-114G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000546.6:c.4G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.4G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.4G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.4G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002005274GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jun 24, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002005274.2

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

Description

Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Reported in adult study participants unaffected with cancer (de Andrade 2017); Published functional studies suggest no damaging effect: functional transactivation (Kato 2003); This variant is associated with the following publications: (PMID: 28861920, 12826609)

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

Last Updated: Sep 29, 2024