NM_000546.5(TP53):c.920-5C>T AND not specified

Clinical significance:Benign (Last evaluated: Dec 20, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001283870.1

Allele description [Variation Report for NM_000546.5(TP53):c.920-5C>T]

NM_000546.5(TP53):c.920-5C>T

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.920-5C>T
HGVS:
  • NC_000017.11:g.7673613G>A
  • NG_017013.2:g.18938C>T
  • NM_000546.5:c.920-5C>T
  • NM_001126112.2:c.920-5C>T
  • NM_001126113.2:c.920-5C>T
  • NM_001126114.2:c.920-5C>T
  • NM_001126115.1:c.524-5C>T
  • NM_001126116.1:c.524-5C>T
  • NM_001126117.1:c.524-5C>T
  • NM_001126118.1:c.803-5C>T
  • NM_001276695.2:c.803-5C>T
  • NM_001276696.2:c.803-5C>T
  • NM_001276697.2:c.443-5C>T
  • NM_001276698.2:c.443-5C>T
  • NM_001276699.2:c.443-5C>T
  • NM_001276760.2:c.803-5C>T
  • NM_001276761.2:c.803-5C>T
  • LRG_321t1:c.920-5C>T
  • LRG_321t2:c.920-5C>T
  • LRG_321t3:c.920-5C>T
  • LRG_321t4:c.920-5C>T
  • LRG_321t5:c.524-5C>T
  • LRG_321t6:c.524-5C>T
  • LRG_321t7:c.524-5C>T
  • LRG_321t8:c.803-5C>T
  • LRG_321:g.18938C>T
  • NC_000017.10:g.7576931G>A
  • NM_000546.4:c.920-5C>T
Links:
dbSNP: rs34361146
NCBI 1000 Genomes Browser:
rs34361146
Molecular consequence:
  • NM_000546.5:c.920-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126112.2:c.920-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126113.2:c.920-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126114.2:c.920-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126115.1:c.524-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126116.1:c.524-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126117.1:c.524-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126118.1:c.803-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276695.2:c.803-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276696.2:c.803-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276697.2:c.443-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276698.2:c.443-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276699.2:c.443-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276760.2:c.803-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276761.2:c.803-5C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001469328Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Benign
(Dec 20, 2019)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Applications of computational algorithm tools to identify functional SNPs.

George Priya Doss C, Sudandiradoss C, Rajasekaran R, Choudhury P, Sinha P, Hota P, Batra UP, Rao S.

Funct Integr Genomics. 2008 Nov;8(4):309-16. doi: 10.1007/s10142-008-0086-7. Epub 2008 Jun 19. Review.

PubMed [citation]
PMID:
18563462

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469328.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 10, 2021

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