(BRCA1 Arg1347Gly)
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Short summary
Believed to be a nonpathogenic polymorphism, although Polyphen 2 predicts a damaging effect.
Polyphen 2 predicts damaging effect
No statistically significant difference between patient and control populations
See Deffenbaugh AM et al. 2002 (12215251).
Impact
Low clinical importance, Uncertain benign
(The "low clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)
Inheritance pattern
unknown
Summary of published research, and additional commentary
Durocher F, Shattuck-Eidens D, McClure M, Labrie F, Skolnick MH, Goldgar DE, Simard J. Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations. Hum Mol Genet. 1996 Jun;5(6):835-42. PubMed PMID: 8776600.
These authors report this variant in 1 of 114 cases and 0 out of 232 controls, they are inconclusive regarding whether it is pathogenic. The allele frequency seems a bit low compared to other reports.
Deffenbaugh AM, Frank TS, Hoffman M, Cannon-Albright L, Neuhausen SL. Characterization of common BRCA1 and BRCA2 variants. Genet Test. 2002 Summer;6(2):119-21. PubMed PMID: 12215251.
(Based on the abstract) These authors conclude this variant (among a set of others) is not deleterious, based on “epidemiological and biological criteria”. It had not statistically significant difference between patient and control populations.
huBEDA0B - CGI sample GS00253-DNA_C01_200_37 het C @ chr17:41243509
GS19648 - var-GS19648-1100-36-ASM het C @ chr17:38497035
GS20509 - var-GS20509-1100-36-ASM het C @ chr17:38497035