Sentence examples for be a benign polymorphism from inspiring English sources

Five of the ALS samples (ND09546, ND10023, ND09582, ND10379, ND10379) carried the synonymous variation p.A66A (c.198 T>C) in exon 2 of TARDBP, but this sequence variant was likely to be a benign polymorphism as it was found in eight of the Caucasian controls and in a single Bedouin sample of the HGDP.

This suggests that the variant is not a high-risk mutation but, as suggested previously [ 13], is more likely to be a benign polymorphism.

The de novo character of this variation in patient CMT-127.04 could not be proven due to lack of the parent's DNA samples; it may therefore still be a benign polymorphism.

The MLH1 Lys618Ala mutation (AAG>GCG; rs35502531), initially supposed to be a benign polymorphism, has been found to be significantly over-represented in sporadic cancers associated with Lynch syndrome; MLH1 appearsappears to have a reduced ability to bind PMS2, one of the MLH1 protein's mismatch repair partners (Medeiros et al. 2012).

This variation was also present in pooled DNA from 10 healthy individuals, demonstrating that it is a benign polymorphism.

This raised the interesting question whether the identified mutation is a benign polymorphism or should be considered a genuine genetic risk factor for disease.

P23L (rs41298432) is a benign polymorphism present in population controls at a frequency of 1 2% (Jarman et al., 1997; Hauf et al., 2000).

Instead, our results support the proposal that the G13964C site is a benign polymorphism, as originally suggested by Buller et al [ 13].

Together with the clinical data [ 21] a likely explanation for the lack of effects is that the hcTnCL29Q mutation is a benign polymorphism accidentally found in an HCM patient.

For the purpose of molecular diagnosis and for adequate surgical management of patients and their relatives, it is crucial to know whether a RET gene variant identified via genetic testing is a benign polymorphism, a variant of unknown clinical significance or a pathological disease-causing mutation (Toledo et al. 2006).

However, although 7501T>C was not found in the mtDNA databases with more than 5,000 sequences [28], [29], it is possible that 7501T>C is only a benign polymorphism not found in the specific mtDNA haplogroups comprising the databases.