NM_000546.5(TP53):c.814G>T (p.Val272Leu) AND Li-Fraumeni syndrome 1

Clinical significance:Pathogenic (Last evaluated: Aug 1, 1992)

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:
RCV000013152.22

Allele description [Variation Report for NM_000546.5(TP53):c.814G>T (p.Val272Leu)]

NM_000546.5(TP53):c.814G>T (p.Val272Leu)

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.814G>T (p.Val272Leu)
HGVS:
  • NC_000017.11:g.7673806C>A
  • NG_017013.2:g.18745G>T
  • NM_000546.5:c.814G>T
  • NM_001126112.2:c.814G>T
  • NM_001126113.2:c.814G>T
  • NM_001126114.2:c.814G>T
  • NM_001126115.1:c.418G>T
  • NM_001126116.1:c.418G>T
  • NM_001126117.1:c.418G>T
  • NM_001126118.1:c.697G>T
  • NP_000537.3:p.Val272Leu
  • NP_001119584.1:p.Val272Leu
  • NP_001119585.1:p.Val272Leu
  • NP_001119586.1:p.Val272Leu
  • NP_001119587.1:p.Val140Leu
  • NP_001119588.1:p.Val140Leu
  • NP_001119589.1:p.Val140Leu
  • NP_001119590.1:p.Val233Leu
  • LRG_321t1:c.814G>T
  • LRG_321t2:c.814G>T
  • LRG_321t3:c.814G>T
  • LRG_321t4:c.814G>T
  • LRG_321t5:c.418G>T
  • LRG_321t6:c.418G>T
  • LRG_321t7:c.418G>T
  • LRG_321t8:c.697G>T
  • LRG_321:g.18745G>T
  • LRG_321p1:p.Val272Leu
  • LRG_321p3:p.Val272Leu
  • LRG_321p4:p.Val272Leu
  • LRG_321p5:p.Val140Leu
  • LRG_321p6:p.Val140Leu
  • LRG_321p7:p.Val140Leu
  • LRG_321p8:p.Val233Leu
  • NC_000017.10:g.7577124C>A
  • NM_000546.4:c.814G>T
  • P04637:p.Val272Leu
  • p.V272L
Protein change:
V140L; VAL272LEU
Links:
UniProtKB: P04637#VAR_005992; OMIM: 191170.0012; dbSNP: 121912657
NCBI 1000 Genomes Browser:
rs121912657
Molecular consequence:
  • NM_000546.5:c.814G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Li-Fraumeni syndrome 1 (LFS1)
Identifiers:
MedGen: C1835398; Orphanet: 524; OMIM: 151623
Age of onset:
All ages
Prevalence:
1-9 / 100 000 524

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033399OMIMno assertion criteria providedPathogenic
(Aug 1, 1992)
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

Absence of hereditary p53 mutations in 10 familial leukemia pedigrees.

Felix CA, D'Amico D, Mitsudomi T, Nau MM, Li FP, Fraumeni JF Jr, Cole DE, McCalla J, Reaman GH, Whang-Peng J, et al.

J Clin Invest. 1992 Aug;90(2):653-8.

PubMed [citation]
PMID:
1644930
PMCID:
PMC443147

Details of each submission

From OMIM, SCV000033399.1

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

Description

Felix et al. (1992) examined the p53 gene in primary lymphoblasts of 25 pediatric patients with acute lymphoblastic leukemia by the RNase protection assay and by SSCP analysis. In 4 of 25, p53 mutations were found. In 1 pedigree consistent with Li-Fraumeni syndrome-1 (151623), a germline G-to-T transversion at codon 272, changing valine to leucine (V272L), was found. The proband died at age 19 of ALL. A brother died of osteogenic sarcoma at the age of 17. Their mother died of uterine cancer at age 37. Bone cancer was the cause of death in a maternal uncle at age 33, and uterine cancer in the maternal grandmother at the age of about 40.

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

Last Updated: May 8, 2017