Table 3 Pathogenic/likely pathogenic variants found in genes associated with primary ciliary dyskinesia.
From: Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients
Patient | Age | Gender | Phenotype group | Co-morbidities | Gene | Gene inheritance | Genotype | Effect | Nucleotide change | Amino acid change | dbSNP | Alt allele freq (AF)—gnomAD exomes | Alt allele freq (AF)—gnomAD genomes | ClinVar | ACMG classification |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
17690R | 58 | M | Severe | Hypertension; diabetes type 2; chronic kidney disease—stage 1 | DNAH11 | AR | Het | Missense variant | NM_001277115.2:c.11804C > T | NP_001264044.1:p.Pro3935Leu | rs72658814 | 0.0002623 | 0.000263044 | LP | LP |
17836S | 25 | M | Mild | Immuno-compromisation 6 days after covid on-set; mild asthma | SPAG1 | AR | Het | Stop gained | NM_172218.3:c.2014C > T | NP_757367.1:p.Gln672Ter | rs201740530 | 8.237e-05 | 9.19987e-05 | LP | P |
18058S | 59 | F | Moderate | No | DNAH11 | AR | Het | Missense variant | NM_001277115.2:c.11804C > T | NP_001264044.1:p.Pro3935Leu | rs72658814 | 0.0002623 | 0.000263044 | LP | LP |
NME8 | AR | Het | Stop gained | NM_016616.5:c.607C > T | NP_057700.3:p.Arg203Ter | rs142023810 | 4.119e-05 | 2.62957e-05 | VUS | LP | |||||
18162R | 61 | M | Severe | Hypertension; diabetes type 2 | DNAH5 | AR | Het | Missense variant | NM_001369.3:c.10616G > A | NP_001360.1:p.Arg3539His | rs769458738 | 1.647e-05 | 5.26087e-05 | LP | P |
18190R | 61 | F | Severe | Hypertension | DNAH11 | AR | Het | Missense variant | NM_001277115.2:c.11804C > T | NP_001264044.1:p.Pro3935Leu | rs72658814 | 0.0002623 | 0.000263044 | LP | LP |
18213R | 52 | M | Severe | No | ABCA7 | AD | Het | Frameshift variant | NM_019112.4:c.2871delC | NP_061985.2:p.Ser958Profs*34 | rs1164193798 | NA | NA | NA | LP |
18300R | 69 | M | Severe | No | DNAH1 | AR | Het | Frameshift variant | NM_015512.5:c.171delC | NP_056327.4:p.Lys58Serfs*25 | rs777765506 | 8.276e-06 | NA | P | P |
18540R | 51 | M | Severe | No | DNAH9 | AR | Het | Splice donor variant | NM_001372.4:c.11600 + 2 T > C | NA | rs1392799300 | NA | NA | NA | LP |
18542R | 69 | M | Critical | Hypertension | DNAH5 | AR | Het | Stop gained | NM_001369.3:c.13486C > T | NP_001360.1:p.Arg4496Ter | rs200901816 | 5.766e-05 | 6.58337e-05 | P | P |
18668R | 82 | F | Moderate | Hypertension, arrythmias | CCNO | AR | Het | Frameshift variant | NM_021147.5:c.258_262dupGGCCC | NP_066970.3:p.Gln88Argfs*8 | rs587777499 | 0.0001171 | 0.000144649 | P | LP |
18810R | 58 | M | Severe | Autoimmune or rheumatologic disease, diabetes type 2 | CCDC103 | AR | Het | Missense variant | NM_213607.3:c.461A > C | NP_998772.1:p.His154Pro | rs145457535 | 0.00126 | 0.00124819 | P | LP |
18959R | 28 | F | Mild | Intermittent asthma | GAS2L2 | AR | Het | Frameshift variant | NM_139285.4:c.1004_1005insT | NP_644814.1:p.Thr337Hisfs*74 | NA | NA | NA | NA | LP |
19107R | 50 | M | Severe | Hypertension | STK36 | AR | Het | Frameshift variant | NM_015690.5:c.1399delG | NP_056505.2:p.Glu467Argfs*13 | rs763400883 | 2.471e-05 | 1.31377e-05 | P | P |
19269R | 37 | M | Moderate | No | STK36 | AR | Het | Splice region variant | NM_015690.5:c.1136 + 5G > A | NA | NA | NA | NA | NA | LP |
19270R | 53 | F | Severe | Hypertension | DNAH1 | AR | Het | Frameshift variant | NM_015512.5:c.171delC | NP_056327.4:p.Lys58Serfs*25 | rs777765506 | 8.276e-06 | NA | P | P |
19311R | 43 | M | Severe | No | CCDC103 | AR | Het | Missense variant | NM_213607.3:c.461A > C | NP_998772.1:p.His154Pro | rs145457535 | 0.00126 | 0.00124819 | P | LP |
19425R | 61 | M | Severe | Hypertension, arrythmias | RAD51AP2 | AR | Het | Frameshift variant | NM_001099218.3:c.2484delA | NP_001092688.1:p.Lys828Asnfs*4 | rs750411008 | 5.797e-05 | 1.31652e-05 | NA | LP |
19581R | 72 | M | Severe | No | CCDC103 | AR | Het | Missense variant | NM_213607.3:c.461A > C | NP_998772.1:p.His154Pro | rs145457535 | 0.00126 | 0.00124819 | P | LP |
LVRN | AR | Het | Frameshift variant | NM_173800.5:c.1856dupA | NP_776161.3:p.Asn619Lysfs*26 | rs1425330587 | NA | NA | NA | LP | |||||
19858R | 67 | M | Moderate | Stroke; neurological or neuropsychiatric disease | DNAH11 | AR | Het | Stop gained | NM_001277115.2:c.1915C > T | NP_001264044.1:p.Gln639Ter | rs200073714 | 0.0001242 | 0.000118301 | P | LP |
25RPR | 57 | M | Mild | No | DNAH1 | AR | Het | Splice acceptor variant | NM_015512.5:c.7199-2A > T | NA | NA | NA | NA | NA | LP |
