ORIGINAL RESEARCH

Clarification of the status of some mutations considered pathogenic, by harmless mutations attributes

About authors

1 Bioinformatics Data Processing Department,
Genotek Ltd., Moscow, Russia

2 Lomonosov Moscow State University, Moscow, Russia

3 The Core Facilities Center “Genetic Polymorphism”,
Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia

Correspondence should be addressed: Dmitry O. Korostin
ul. Gubkina, d. 3, Moscow, Russia, 119991; moc.liamg@nitsorok.d

Received: 2016-02-10 Accepted: 2016-02-19 Published online: 2017-01-05
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Number of the most important mutations obtained from HGMD and predicted by snpEff
*Names are given as they appear in snpEff. missense_variant – missense mutations; stop_gained – nonsense mutations; synonymous_variant - synonymous mutations; start_lost – a codon variant that changes at least one base of the canonical start codon; 3_prime_UTR_variant – a UTR variant of the 3’ UTR; downstream_gene_variant – a sequence variant located 3’ of a gene. upstream_gene_variant - a sequence variant located 5’ of a gene; stop_lost – a sequence variant where at least one base of the terminator codon (stop) is changed resulting in an elongated transcript; splice_region_variant – a sequence variant in which a change has occurred within the region; of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron; sequence_feature – a sequence variant within any region initiator_codon_variant – a codon variant that changes at least one base of the first codon of a transcript; intron_variant – a transcript variant occurring within an intron non_coding_exon_variant – a sequence variant that changes non-coding exon sequence of a noncoding transcript; splice_donor_variant – a splice variant that changes the 2 base pair region at the 5’ end of an intron; splice_acceptor_variant - a splice variant that changes the 2 base region at the 3’ end of an intron; stop_retained_variant – a sequence variant where at least one base in the terminator codon is changed, but the terminator remains; 5_prime_UTR_variant - a UTR variant of the 5’ UTR; intergenic_region – a region containing or overlapping no genes that is bounded on either side by a gene, or bounded by a gene and the end of the chromosome.