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NM_000546.6(TP53):c.97-52G>A AND not provided

Germline classification:
Likely benign (2 submissions)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001694168.3

Allele description [Variation Report for NM_000546.6(TP53):c.97-52G>A]

NM_000546.6(TP53):c.97-52G>A

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.97-52G>A
HGVS:
  • NC_000017.11:g.7676324C>T
  • NG_017013.2:g.16227G>A
  • NM_000546.6:c.97-52G>AMANE SELECT
  • NM_001126112.3:c.97-52G>A
  • NM_001126113.3:c.97-52G>A
  • NM_001126114.3:c.97-52G>A
  • NM_001126118.2:c.-21-52G>A
  • NM_001276695.3:c.-21-52G>A
  • NM_001276696.3:c.-21-52G>A
  • NM_001276760.3:c.-21-52G>A
  • NM_001276761.3:c.-21-52G>A
  • LRG_321:g.16227G>A
  • NC_000017.10:g.7579642C>T
Links:
dbSNP: rs540683791
NCBI 1000 Genomes Browser:
rs540683791
Molecular consequence:
  • NM_000546.6:c.97-52G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126112.3:c.97-52G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126113.3:c.97-52G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126114.3:c.97-52G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126118.2:c.-21-52G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276695.3:c.-21-52G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276696.3:c.-21-52G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276760.3:c.-21-52G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276761.3:c.-21-52G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001905958Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

SCV001954434Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus, SCV001905958.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001954434.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024