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NM_000546.5(TP53):c.722C>T (p.Ser241Phe) AND Hepatoblastoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 14, 1992
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:
RCV000013153.23

Allele description

NM_000546.5(TP53):c.722C>T (p.Ser241Phe)

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.722C>T (p.Ser241Phe)
HGVS:
  • NC_000017.11:g.7674241G>A
  • NG_017013.2:g.18310C>T
  • NM_000546.5:c.722C>T
  • NM_001126112.2:c.722C>T
  • NM_001126113.2:c.722C>T
  • NM_001126114.2:c.722C>T
  • NM_001126115.1:c.326C>T
  • NM_001126116.1:c.326C>T
  • NM_001126117.1:c.326C>T
  • NM_001126118.1:c.605C>T
  • NP_000537.3:p.Ser241Phe
  • NP_001119584.1:p.Ser241Phe
  • NP_001119585.1:p.Ser241Phe
  • NP_001119586.1:p.Ser241Phe
  • NP_001119587.1:p.Ser109Phe
  • NP_001119588.1:p.Ser109Phe
  • NP_001119589.1:p.Ser109Phe
  • NP_001119590.1:p.Ser202Phe
  • LRG_321t1:c.722C>T
  • LRG_321t2:c.722C>T
  • LRG_321t3:c.722C>T
  • LRG_321t4:c.722C>T
  • LRG_321t5:c.326C>T
  • LRG_321t6:c.326C>T
  • LRG_321t7:c.326C>T
  • LRG_321t8:c.605C>T
  • LRG_321:g.18310C>T
  • LRG_321p1:p.Ser241Phe
  • LRG_321p3:p.Ser241Phe
  • LRG_321p4:p.Ser241Phe
  • LRG_321p5:p.Ser109Phe
  • LRG_321p6:p.Ser109Phe
  • LRG_321p7:p.Ser109Phe
  • LRG_321p8:p.Ser202Phe
  • NC_000017.10:g.7577559G>A
  • NM_000546.4:c.722C>T
  • P04637:p.Ser241Phe
  • p.S241F
Protein change:
S109F; SER241PHE
Links:
UniProtKB: P04637#VAR_005969; OMIM: 191170.0013; dbSNP: rs28934573
NCBI 1000 Genomes Browser:
rs28934573
Molecular consequence:
  • NM_000546.5:c.722C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hepatoblastoma
Identifiers:
MedGen: C0206624

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033400OMIM
no assertion criteria provided
Pathogenic
(May 14, 1992) 		germlineliterature only

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

Smith, H. S. Personal Communication. 1993. San Francisco, Calif.

Help

Summary from all submissions

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

Citations

PubMed

Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.

Toguchida J, Yamaguchi T, Dayton SH, Beauchamp RL, Herrera GE, Ishizaki K, Yamamuro T, Meyers PA, Little JB, Sasaki MS, et al.

N Engl J Med. 1992 May 14;326(20):1301-8.

PubMed [citation]
PMID:
1565143

Details of each submission

From OMIM, SCV000033400.2

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

Description

Toguchida et al. (1992) identified a ser241-to-phe (S241F) mutation due to a TCC-to-TTC change in exon 7 of the p53 gene in a patient whose hepatoblastoma (see 114550) was diagnosed at the age of 3 months. At the age of 8 years, multiple foci of osteosarcoma (259500) were discovered both within and outside the field of radiation therapy for the hepatoblastoma. SSCP analysis in the family suggested that this was a novel germline mutation. The same mutation was identified in an osteosarcoma by Smith-Sorensen et al. (1993).

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

Last Updated: Dec 6, 2016