NM_000546.5(TP53):c.475_481dupGCCATGG (p.Ala161Glyfs) AND Choroid plexus papilloma

Clinical significance:Pathogenic (Last evaluated: May 20, 2002)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013179.23

Allele description [Variation Report for NM_000546.5(TP53):c.475_481dupGCCATGG (p.Ala161Glyfs)]

NM_000546.5(TP53):c.475_481dupGCCATGG (p.Ala161Glyfs)

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.5(TP53):c.475_481dupGCCATGG (p.Ala161Glyfs)
HGVS:
  • NC_000017.11:g.7675131_7675137dupCCATGGC
  • NG_017013.2:g.17414_17420dupGCCATGG
  • NM_000546.5:c.475_481dupGCCATGG
  • NM_001126112.2:c.475_481dupGCCATGG
  • NM_001126113.2:c.475_481dupGCCATGG
  • NM_001126114.2:c.475_481dupGCCATGG
  • NM_001126115.1:c.79_85dupGCCATGG
  • NM_001126116.1:c.79_85dupGCCATGG
  • NM_001126117.1:c.79_85dupGCCATGG
  • NM_001126118.1:c.358_364dupGCCATGG
  • NP_000537.3:p.Ala161Glyfs
  • NP_001119584.1:p.Ala161Glyfs
  • NP_001119585.1:p.Ala161Glyfs
  • NP_001119586.1:p.Ala161Glyfs
  • NP_001119587.1:p.Ala29Glyfs
  • NP_001119588.1:p.Ala29Glyfs
  • NP_001119589.1:p.Ala29Glyfs
  • NP_001119590.1:p.Ala122Glyfs
  • LRG_321t1:c.475_481dupGCCATGG
  • LRG_321t2:c.475_481dupGCCATGG
  • LRG_321t3:c.475_481dupGCCATGG
  • LRG_321t4:c.475_481dupGCCATGG
  • LRG_321t5:c.79_85dupGCCATGG
  • LRG_321t6:c.79_85dupGCCATGG
  • LRG_321t7:c.79_85dupGCCATGG
  • LRG_321t8:c.358_364dupGCCATGG
  • LRG_321:g.17414_17420dupGCCATGG
  • LRG_321p1:p.Ala161Glyfs
  • LRG_321p3:p.Ala161Glyfs
  • LRG_321p4:p.Ala161Glyfs
  • LRG_321p5:p.Ala29Glyfs
  • LRG_321p6:p.Ala29Glyfs
  • LRG_321p7:p.Ala29Glyfs
  • LRG_321p8:p.Ala122Glyfs
  • NC_000017.10:g.7578449_7578455dupCCATGGC
Links:
OMIM: 191170.0036; dbSNP: 863223301
NCBI 1000 Genomes Browser:
rs863223301
Molecular consequence:
  • NM_000546.5:c.475_481dupGCCATGG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Choroid plexus papilloma (CPP)
Identifiers:
MedGen: C0205770; Orphanet: 251899; OMIM: 260500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033426OMIMno assertion criteria providedPathogenic
(May 20, 2002)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Investigations on a clinically and functionally unusual and novel germline p53 mutation.

Rutherford J, Chu CE, Duddy PM, Charlton RS, Chumas P, Taylor GR, Lu X, Barnes DM, Camplejohn RS.

Br J Cancer. 2002 May 20;86(10):1592-6.

PubMed [citation]
PMID:
12085209
PMCID:
PMC2746598

Details of each submission

From OMIM, SCV000033426.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 29-year-old woman with a rare choroid plexus papilloma (260500) who had had, at the age of 22 years, an osteosarcoma (259500), Rutherford et al. (2002) detected a germline 7-bp insertion in exon 5 of the p53 gene. The alteration was predicted to produce amino acid substitutions beginning with alanine to glycine at position 161 and a stop codon at position 182 in the mutated protein. Two assays of p53 function gave apparently wildtype results on peripheral blood lymphocytes from this woman. The mutant allele was expressed either at very low levels or not at all in phytohemagglutinin-stimulated lymphocytes. Furthermore, the mutant protein was completely nonfunctional in terms of its ability to transactivate a series of p53-responsive genes, to transrepress a target gene, and to inhibit colony growth in transfected cells. However, data from irradiated peripheral blood lymphocytes and transfected cells suggested that this truncated, mutant protein retained significant ability to induce apoptosis.

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

Last Updated: Sep 22, 2017