2 |
c.190+2_190+3dup |
Clearly pathogenic5
|
cDNA sequencing revealed use of novel splice donor site (GT) at c.190+3_190+4, resulting in inclusion 2 bp from 5′ end of intron 2, a frame shift and premature truncation of the peptide—p.(Leu64Cysfs*143).35
|
Use of novel splice site |
3 |
c.313+2dup |
Likely to be pathogenic4
|
RT-PCR sequencing revealed skipping of exon 3, resulting in an in-frame deletion—p.(Leu64_Pro105delinsSer).30
|
Inactivation of wild-type splice site |
3 |
c.313+5G>A |
Likely to be pathogenic4
|
cDNA sequencing revealed skipping of exon 3, resulting in an in-frame deletion—p.(Leu64_Pro105delinsSer).36
|
Inactivation of wild-type splice site |
3 |
c.313+6T>C |
Likely to be pathogenic4
|
cDNA sequencing revealed skipping of exon 3, resulting in an in-frame deletion—p.(Leu64_Pro105delinsSer).34
|
Inactivation of wild-type splice site |
6 |
c.941-12G>A |
Likely to be pathogenic4
|
RT-PCR sequencing revealed abnormal splicing of intron 6 (no further information provided by authors).37
|
Unknown |
7 |
c.1061-8T>C |
Clearly not pathogenic1
|
RT-PCR sequencing reveals normal splicing of intron 7.34
|
Normal splicing |
8 |
c.1186+5G>A |
Clearly pathogenic5
|
RT-PCR sequencing revealed inclusion of intron 8, resulting in a frame shift and premature truncation of the peptide—p.(Gly396fs*26).30
|
Use of novel splice site |
8 |
c.1187-10G>A |
Clearly pathogenic5
|
cDNA sequencing reveals creation of novel acceptor site resulting in inclusion of 8 bp (ACCCCCAG) from 3′ end of intron 8, a frame shift and premature truncation of the peptide—p.(Gly396Aspfs*20).38
|
Use of novel splice site |
9 |
c.1359-31_1359-23delinsCGGCT |
Clearly pathogenic5
|
mRNA sequencing revealed retention of intron 9 and evidence that two additional transcripts are produced using cryptic splice sites in exon 10. Due to removal of the invariant A at consensus splicing branch site in intron 9.39
|
Use of novel splice sites |
9 |
c.1359-5C>G |
Clearly pathogenic5
|
mRNA sequencing revealed retention of intron 9, resulting in a frame shift and premature truncation of the peptide—p.(Ser453Argfs*1).34
|
Inactivation of wild-type splice site |
10 |
c.1586+5G>A |
Likely to be pathogenic4
|
RT-PCR sequencing revealed alternate splicing resulting in two abnormal mRNAs: (a) skipping of exon 10 and (b) inclusion of 22 novel amino acids from the activation of a cryptic splice site.40
|
Inactivation of wild-type splice site and use of cryptic splice site |
12 |
c.1845+11C>G |
Likely to be pathogenic4
|
RT-PCR revealed that approximately half the transcripts use the novel splice site, resulting in inclusion of 11 bp from 5′ end of intron 12 into the transcript, a frame shift and premature truncation of the peptide—p.(Glu615fs*53).41
|
Normal splicing and use of novel splice site |
14 |
c.2140+5G>A |
Unlikely to be pathogenic2
|
RT-PCR sequencing reveals normal splicing of intron 14.34
|
Normal splicing |
14 |
c.2140+86C>G |
Likely to be pathogenic4
|
RT-PCR sequencing revealed creation of a novel splice donor site, resulting in inclusion of 81 bp from 5′ end of intron 14 and a 27aa insertion into peptide p.(Thr713_Glu714ins27). Resulting peptide fails to leave the ER.42
|
Use of novel splice site |
15 |
c.2312-3C>A |
Likely to be pathogenic4
|
cDNA sequencing reveals skipping of exon 16, predicted to result in an in-frame deletion—p.(Ala771_Ile796del).36
|
Inactivation of wild-type splice site |