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NM_000546.6(TP53):c.66A>G (p.Leu22=) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 20, 2022
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:
RCV000483133.6

Allele description [Variation Report for NM_000546.6(TP53):c.66A>G (p.Leu22=)]

NM_000546.6(TP53):c.66A>G (p.Leu22=)

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.66A>G (p.Leu22=)
HGVS:
  • NC_000017.11:g.7676529T>C
  • NG_017013.2:g.16022A>G
  • NM_000546.6:c.66A>GMANE SELECT
  • NM_001126112.3:c.66A>G
  • NM_001126113.3:c.66A>G
  • NM_001126114.3:c.66A>G
  • NM_001126118.2:c.-169A>G
  • NM_001276695.3:c.-52A>G
  • NM_001276696.3:c.-52A>G
  • NM_001276760.3:c.-52A>G
  • NM_001276761.3:c.-52A>G
  • NP_000537.3:p.Leu22=
  • NP_000537.3:p.Leu22=
  • NP_001119584.1:p.Leu22=
  • NP_001119585.1:p.Leu22=
  • NP_001119586.1:p.Leu22=
  • LRG_321t1:c.66A>G
  • LRG_321:g.16022A>G
  • LRG_321p1:p.Leu22=
  • NC_000017.10:g.7579847T>C
  • NM_000546.4:c.66A>G
  • NM_000546.5:c.66A>G
  • p.L22L
Links:
dbSNP: rs748527030
NCBI 1000 Genomes Browser:
rs748527030
Molecular consequence:
  • NM_001126118.2:c.-169A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276695.3:c.-52A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276696.3:c.-52A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276760.3:c.-52A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276761.3:c.-52A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000546.6:c.66A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126112.3:c.66A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126113.3:c.66A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126114.3:c.66A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000565620GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Oct 20, 2022) 		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, SCV000565620.5

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

Description

Nucleotide substitution has no predicted effect on splicing and is not conserved across species; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23027126, 21317560, 26513723, 19160491, 24813712, 22264786, 21722702, 24343861, 26657150, 27776193, 24665023, 30252118, 31519161)

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

Last Updated: Oct 13, 2024