Germ line mutations in shelterin complex genes identified in CLL pedigrees
| Gene . | Mutation position . | . | . | . | Effect predictions . | . | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| Genomic (hg19) . | cDNA* . | Protein . | Variant type . | Pedigree . | Carriers† . | CADD‡ . | SIFT . | SuSPect§ . | GERP . | |
| POT1 | 7:g.124481233C>T | c.1164-1G>A | N/A | Splice acceptor | 5047 | 3/3/3 | 17.16 | N/A | N/A | 4.67 |
| POT1 | 7:g.124532337T>C | c.107A>G | p.Tyr36Cys | Missense | 162 | 2/2/2 | 18.9 | Deleterious | 71 | 5.71 |
| POT1 | 7:g.124482952_124482953insA | c.1071_1072insT | p.Gln358SerfsTer13 | Frameshift | 4029 | 2/2/4 | N/A | N/A | N/A | 4.71 |
| POT1 | 7:g.124482897T>C | c.1127A>G | p.Gln376Arg | Missense | 4013 | 2/2/3 | 23 | Deleterious | 50 | 5.55 |
| ACD | 16:g.67692984T>G | c.752-2A>C | N/A | Splice acceptor | 233 | 2/2/2 | 19.35 | N/A | N/A | 5.15 |
| TERF2IP | 16:g.75682090G>C | c.310G>C | p.Ala104Pro | Missense | 4092 | 2/2/3 | 10.15 | Tolerated | 10 | 2 |
| TERF2IP | 16:g.75682178G>A | c.398G>A | p.Arg133Gln | Missense | 4014 | 2/3/3 | 14.88 | Deleterious | 73 | 5.34 |
| Gene . | Mutation position . | . | . | . | Effect predictions . | . | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| Genomic (hg19) . | cDNA* . | Protein . | Variant type . | Pedigree . | Carriers† . | CADD‡ . | SIFT . | SuSPect§ . | GERP . | |
| POT1 | 7:g.124481233C>T | c.1164-1G>A | N/A | Splice acceptor | 5047 | 3/3/3 | 17.16 | N/A | N/A | 4.67 |
| POT1 | 7:g.124532337T>C | c.107A>G | p.Tyr36Cys | Missense | 162 | 2/2/2 | 18.9 | Deleterious | 71 | 5.71 |
| POT1 | 7:g.124482952_124482953insA | c.1071_1072insT | p.Gln358SerfsTer13 | Frameshift | 4029 | 2/2/4 | N/A | N/A | N/A | 4.71 |
| POT1 | 7:g.124482897T>C | c.1127A>G | p.Gln376Arg | Missense | 4013 | 2/2/3 | 23 | Deleterious | 50 | 5.55 |
| ACD | 16:g.67692984T>G | c.752-2A>C | N/A | Splice acceptor | 233 | 2/2/2 | 19.35 | N/A | N/A | 5.15 |
| TERF2IP | 16:g.75682090G>C | c.310G>C | p.Ala104Pro | Missense | 4092 | 2/2/3 | 10.15 | Tolerated | 10 | 2 |
| TERF2IP | 16:g.75682178G>A | c.398G>A | p.Arg133Gln | Missense | 4014 | 2/3/3 | 14.88 | Deleterious | 73 | 5.34 |
GERP, Genomic Evolutionary Rate Profiling score; N/A, not applicable.
POT1 reference transcript is NM_015450 and ACD reference transcript is NM_001082486.
Carriers given as number of familial cases with mutation/number of cases in family exome sequenced/total number of CLL cases in family.
CADD Phred-like score.
Scores of 50 and above considered to indicate deleterious mutations.