TCOF1 P672S - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

TCOF1 P672S

(TCOF1 Pro672Ser)


Short summary

The variant was not found to segregate with disease.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated benign

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

dominant

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat. 2000 Oct;16(4):315-22. Review. PubMed PMID: 11013442.

The investigators examined 25 coding exons and adjacent splice junctions through SSCP and
direct sequencing. They reported pathogenic in 26/28 families examined. No families had the P672S mutation and they report the mutation in 1% of controls.

Genomes
 

Other external references
 

    Web search results (1 hit -- see all)
  • Polymorphic Mutations
    Wise et al., 1997#, Splendore et al., 2000*, Teber et al, 2004 ... P672S. c.2245 C>T. p.Pro749Ser. missense. Splendore et al., 2000* 0.01* 10. Exon 16. c.2429 C>T ...
    www.genoma.ib.usp.br/TCOF1_database/poly_changes.php

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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