ABCC7 p.Val1318Gly
| ClinVar: |
c.3953T>C
,
p.Val1318Ala
?
, not provided
|
| CF databases: |
c.3953T>C
,
p.Val1318Ala
(CFTR1)
?
, CBAVD.
|
| Predicted by SNAP2: | A: N (97%), C: N (78%), D: N (53%), E: N (66%), F: N (53%), G: N (82%), H: N (66%), I: N (87%), K: N (57%), L: N (87%), M: N (78%), N: N (66%), P: N (72%), Q: N (72%), R: N (57%), S: N (93%), T: N (93%), W: D (59%), Y: N (53%), |
| Predicted by PROVEAN: | A: N, C: N, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: N, T: N, W: D, Y: D, |
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[hide] Cystic fibrosis genetic counseling difficulties du... J Cyst Fibros. 2012 Jul;11(4):344-8. doi: 10.1016/j.jcf.2012.01.004. Epub 2012 Feb 11. Poulou M, Fylaktou I, Fotoulaki M, Kanavakis E, Tzetis M
Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene.
J Cyst Fibros. 2012 Jul;11(4):344-8. doi: 10.1016/j.jcf.2012.01.004. Epub 2012 Feb 11., [PMID:22326559]
Abstract [show]
BACKGROUND: The Cystic Fibrosis database includes amongst the 1893 gene mutations and polymorphisms a lot of missense mutations, the disease status of which still remains unproven. In populations with high rates of CFTR mutation heterogeneity, molecular diagnosis is difficult often causing counseling difficulties especially in cases of rare and/or novel mutations. METHODS: Approaches to counseling in cases of novel variants. RESULTS: Thirty-seven novel variants (4 synonymous, 24 missense, 2 frameshift and 10 intronic substitutions) were identified and evaluated with the help of in silico tools. CONCLUSIONS: In a diagnostic environment the answers have to be given within a specific timeframe, the in silico tools in combination with the phenotype offer some help but their diagnostic value is limited and cannot be used in isolation for the determination of the severity of the mutation.
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No. Sentence Comment
61 (2) Disease causing Screening 9 24 (21) c.3953TNG p.Val1318Gly Prob. Dam. NT 0.00 Path. (8) Disease causing Azoospermia 10 22 (19) c.3494ANC p.Lys1165Thr Poss. Dam. NT 0.04 Path. (8) Disease causing Bronchitis 11 18 (15) c.2930CNG p.Ser977Cys Poss. Dam. NT 0.01 Path. (5) Disease causing Screening 12 11 (10) c.1561ANT p.Ile521Phe Poss. Dam. NT 0.01 Path. (0) Disease causing CBAVD 13 22 (19) c.3634GNT p.Val1212Phe Poss. Dam. T 0.42 Path. (6) Disease causing Screening 14 8 (7) c.955TNG p.Phe319Val Poss. Dam. T 0.48 Neut.
X
ABCC7 p.Val1318Gly 22326559:61:52
status: NEW73 Disruption of ESE motifs/creation of ESS motifs Acc increased (0.44/0.50) Acc gained 0.51 p.V1318G c.3953TNG No change New donor site (48.15/74.98) (+55.73%) if used causes reduction of exon size (-11nt) Donor increased (0.31/0.99) p.K1165T c.3494ANC No change Minor changes No change p.S977C c.2930CNG No change Minor changes No change p.I521F c.1561ANT No change Minor changes No change p.V1212F c.3634GNT No change Disruption of ESE motifs Donor gained 0.36 p.F319V c.955TNG No change Minor changes Acc increased (0.42/0.61) p.G817V c.2450GNT No change Minor changes No change p.C491S c.1472GNC No change Disruption of ESE motifs Acceptor sites created p.I336L c.1006ANC No change Disruption of ESE motifs No change p.F305V c.913TNG Increased score for SRp55 Disruption of ESS motifs Donor gained (0.99) p.S511C c.1532CNG Decreased score for SC35 Disruption of ESS motifs No change p.S1311N c.3932GNA Changes on ss scores Disruption of ESS motifs Donor increased (0.50/0.63) p.L926F c.2778GNT No change Creation of ESS motifs Changes on ss scores p.A1225V c.3674CNT No change Disruption of ESE motif/creation of ESS motif Donor increased (0.72/0.99) p.F533L c.1597TNC No change Creation of ESE motifs/disruption of ESS motifs No change p.Q1209H c.3627ANC No change Minor changes No change c.2490+3ANG No change Minor changes No change c.2909-36TNC Decrease of donor ss Disruption of ESS motifs Acc increased (0.33/0.48)/donor increased (0.74/0.94) c.2909-10TNC Change for SRp55 best hit (3.97/5.16) Disruption of ESS motifs No change c.4137-21GNT No change Disruption of ESE and creation of ESS motifs Acc increased (0.86/0.96) c.1116+4ANT No change WT donor site disrupted Marginal changes on donor ss c.2988+30TNC No change Disruption of ESE motif/creation of ESS motif No change c.1680-27GNA No change Disruption of ESS motifs No change c.2620-24CNG No change Creation of ESE motifs Donor gained 0.96 c.2620-18delT No change New donor ss/changes on ESE and ESS motifs Acc increased (0.41/0.55) c.2658-8CNG Decreased score for acc site Minor changes Marginal changes on ss p.L1227L c.3681ANG No change Changes on ESE and ESS motifs No change p.R1158R c.3472CNA No change Creation of ESE motifs/creation of ESS motifs Marginal changes on ss p.D1275D c.3825TNC No change No change Donor increased (0.56/0.87) p.L346L c.1036CNT No change No change No change Abbreviations: ESE: exonic splicing enhancer, HSF: human splicing finder, ESS: exonic splicing silencer, WT: wild type, Mut: mutant, ss: splicing site.
X
ABCC7 p.Val1318Gly 22326559:73:92
status: NEW75 Disruption of ESE motifs/creation of ESS motifs Acc increased (0.44/0.50) Acc gained 0.51 p.V1318G c.3953TNG No change New donor site (48.15/74.98) (+55.73%) if used causes reduction of exon size (-11nt) Donor increased (0.31/0.99) p.K1165T c.3494ANC No change Minor changes No change p.S977C c.2930CNG No change Minor changes No change p.I521F c.1561ANT No change Minor changes No change p.V1212F c.3634GNT No change Disruption of ESE motifs Donor gained 0.36 p.F319V c.955TNG No change Minor changes Acc increased (0.42/0.61) p.G817V c.2450GNT No change Minor changes No change p.C491S c.1472GNC No change Disruption of ESE motifs Acceptor sites created p.I336L c.1006ANC No change Disruption of ESE motifs No change p.F305V c.913TNG Increased score for SRp55 Disruption of ESS motifs Donor gained (0.99) p.S511C c.1532CNG Decreased score for SC35 Disruption of ESS motifs No change p.S1311N c.3932GNA Changes on ss scores Disruption of ESS motifs Donor increased (0.50/0.63) p.L926F c.2778GNT No change Creation of ESS motifs Changes on ss scores p.A1225V c.3674CNT No change Disruption of ESE motif/creation of ESS motif Donor increased (0.72/0.99) p.F533L c.1597TNC No change Creation of ESE motifs/disruption of ESS motifs No change p.Q1209H c.3627ANC No change Minor changes No change c.2490+3ANG No change Minor changes No change c.2909-36TNC Decrease of donor ss Disruption of ESS motifs Acc increased (0.33/0.48)/donor increased (0.74/0.94) c.2909-10TNC Change for SRp55 best hit (3.97/5.16) Disruption of ESS motifs No change c.4137-21GNT No change Disruption of ESE and creation of ESS motifs Acc increased (0.86/0.96) c.1116+4ANT No change WT donor site disrupted Marginal changes on donor ss c.2988+30TNC No change Disruption of ESE motif/creation of ESS motif No change c.1680-27GNA No change Disruption of ESS motifs No change c.2620-24CNG No change Creation of ESE motifs Donor gained 0.96 c.2620-18delT No change New donor ss/changes on ESE and ESS motifs Acc increased (0.41/0.55) c.2658-8CNG Decreased score for acc site Minor changes Marginal changes on ss p.L1227L c.3681ANG No change Changes on ESE and ESS motifs No change p.R1158R c.3472CNA No change Creation of ESE motifs/creation of ESS motifs Marginal changes on ss p.D1275D c.3825TNC No change No change Donor increased (0.56/0.87) p.L346L c.1036CNT No change No change No change Abbreviations: ESE: exonic splicing enhancer, HSF: human splicing finder, ESS: exonic splicing silencer, WT: wild type, Mut: mutant, ss: splicing site.
X
ABCC7 p.Val1318Gly 22326559:75:92
status: NEW