NM_000546.5(TP53):c.*6T>A AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 15, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000586669.1

Allele description [Variation Report for NM_000546.5(TP53):c.*6T>A]

NM_000546.5(TP53):c.*6T>A

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.5(TP53):c.*6T>A
HGVS:
  • NC_000017.11:g.7669603A>T
  • NG_017013.2:g.22948T>A
  • NM_000546.5:c.*6T>A
  • NM_001126112.2:c.*6T>A
  • NM_001126113.2:c.*207T>A
  • NM_001126114.2:c.*295T>A
  • NM_001126115.1:c.*6T>A
  • NM_001126116.1:c.*295T>A
  • NM_001126117.1:c.*207T>A
  • NM_001126118.1:c.*6T>A
  • NM_001276695.2:c.*207T>A
  • NM_001276696.2:c.*295T>A
  • NM_001276697.2:c.*6T>A
  • NM_001276698.2:c.*295T>A
  • NM_001276699.2:c.*207T>A
  • NM_001276760.2:c.*6T>A
  • NM_001276761.2:c.*6T>A
  • LRG_321t1:c.*6T>A
  • LRG_321t2:c.*6T>A
  • LRG_321t3:c.*295T>A
  • LRG_321t4:c.*207T>A
  • LRG_321t5:c.*6T>A
  • LRG_321t6:c.*295T>A
  • LRG_321t7:c.*207T>A
  • LRG_321t8:c.*6T>A
  • LRG_321:g.22948T>A
  • NC_000017.10:g.7572921A>T
  • NM_000546.4:c.*6T>A
Links:
dbSNP: rs369567704
NCBI 1000 Genomes Browser:
rs369567704
Molecular consequence:
  • NM_000546.5:c.*6T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126112.2:c.*6T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126113.2:c.*207T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126114.2:c.*295T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126115.1:c.*6T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126116.1:c.*295T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126117.1:c.*207T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126118.1:c.*6T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276695.2:c.*207T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276696.2:c.*295T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276697.2:c.*6T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276698.2:c.*295T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276699.2:c.*207T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276760.2:c.*6T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276761.2:c.*6T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000697421Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(May 15, 2017)
germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697421.1

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

Description

Variant summary: The TP53 c.*6T>A variant involves the alteration of a non-conserved nucleotide in the 3'-UTR. One in silico tool predicts a benign outcome for this variant. This variant was found in 3/121410 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0002884 (3/10404). This frequency is about 7 times the estimated maximal expected allele frequency of a pathogenic TP53 variant (0.0000398), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. One clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS)-possibly benign until additional information becomes available.

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

Last Updated: Jun 14, 2021

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