ABCC7 p.Gly1047Arg
| ClinVar: |
c.3139G>C
,
p.Gly1047Arg
?
, not provided
c.3140G>A , p.Gly1047Asp ? , not provided |
| CF databases: |
c.3139G>C
,
p.Gly1047Arg
(CFTR1)
?
,
c.3140G>A , p.Gly1047Asp (CFTR1) ? , The above mutation was detected by direct sequencing in a CBAVD patient. It is not found in 58 normal chromosomes in fathers of CF patients nor in 150 random control CFTR alleles by dot blot analysis. |
| Predicted by SNAP2: | A: N (82%), C: D (53%), D: D (71%), E: D (71%), F: D (59%), H: D (63%), I: D (66%), K: D (80%), L: D (66%), M: D (63%), N: D (63%), P: N (57%), Q: D (66%), R: D (75%), S: N (66%), T: N (72%), V: N (66%), W: D (75%), Y: D (66%), |
| Predicted by PROVEAN: | A: N, C: N, D: N, E: N, F: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N, |
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[hide] Cystic fibrosis mutations and genotype-pulmonary p... J Cyst Fibros. 2006 Jan;5(1):33-41. Epub 2005 Nov 4. Braun AT, Farrell PM, Ferec C, Audrezet MP, Laxova A, Li Z, Kosorok MR, Rosenberg MA, Gershan WM
Cystic fibrosis mutations and genotype-pulmonary phenotype analysis.
J Cyst Fibros. 2006 Jan;5(1):33-41. Epub 2005 Nov 4., [PMID:16275171]
Abstract [show]
BACKGROUND: Although there are more than 1000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, most of them are uncommon and only limited information exists regarding genotype-pulmonary phenotype relationships. METHODS: We determined and classified the CFTR mutations using denaturing high-performance liquid chromatography and developed new, quantitative methods to categorize pulmonary phenotypes. RESULTS: Two novel alleles were discovered, namely G1047R and 1525-2A-->G, which were accompanied by F508del and G551D mutations, respectively. Assessment of numerous options revealed that CF pulmonary phenotype categorization in children cannot be accomplished with clinical or pulmonary function data but is facilitated by longitudinal quantitative chest radiology. It was most useful to categorize pulmonary disease status by evaluating the typical pattern of abnormalities in patients homozygous for the F508del mutation, and then compare patients with minor mutations to this typical CF pulmonary phenotype. By this method, both patients with novel mutations have pulmonary phenotypes typical of F508del homozygotes. However, patients with class IV mutations (e.g., R347P) or with pancreatic sufficiency showed serial chest radiographs that were atypically mild. CONCLUSIONS: Longitudinal quantitative chest radiography provides a new strategy for CF pulmonary phenotype categorization that should be useful for genotype-phenotype delineation in individual patients and in both epidemiologic studies and clinical trials involving groups of children with CF.
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No. Sentence Comment
2 Results: Two novel alleles were discovered, namely G1047R and 1525-2AYG, which were accompanied by F508del and G551D mutations, respectively.
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ABCC7 p.Gly1047Arg 16275171:2:51
status: NEW80 Thereafter, the longitudinal patterns of WCXR and BCXR for the two patients with novel mutations (i.e., G1047R and 1525-2AYG) were superimposed on the Table 1 Summary of patient characteristics Characteristics F508del homozygote group (n =38) Pancreatic sufficiency groupa (n =19) Sex Male 25 8 Female 13 11 Center Madison 21 12 Milwaukee 17 7 Group Screened 38 3 Control 0 14 Other 0 2 Meconium ileus Yes 6 0 No 32 19 Mean age at diagnosis (weeks)TS.D. 7.15T2.4 193.1T192 Mean sweat Cl mEq/lTS.D.
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ABCC7 p.Gly1047Arg 16275171:80:104
status: NEW101 Two novel mutations for North American CF patients were discovered during our investigation process, namely G1047R (patient #1) and 1525-2AYG (patient #2).
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ABCC7 p.Gly1047Arg 16275171:101:108
status: NEW119 G1047R describes a guanine to cytosine base-pair substitution in the 1047th codon which would lead to a missense mutation, changing glycine to arginine.
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ABCC7 p.Gly1047Arg 16275171:119:0
status: NEW122 The patient`s genotype of F508del/G1047R or class II/I would suggest a ''severe`` phenotype as both mutations lead to a loss of functional CFTR protein at the apical cell membrane.
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ABCC7 p.Gly1047Arg 16275171:122:34
status: NEW130 In addition, their spirometry results are also similar to the WCXRscore 0 5 10 15 20 25 30 F508del/F508del Pancreatic sufficiency Patient 1 (F508del/G1047R) WCXRscore 0 5 10 15 20 25 30 F508del/F508del Pancreatic sufficiency Patient 2 (G551D/1525-2A->G) 0 1 2 3 4 5 6 7 8 9 10 11 12 Age in years Fig. 3.
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ABCC7 p.Gly1047Arg 16275171:130:149
status: NEW176 The two novel mutations (G1047R and 1525-2AYG) are named following accepted recommendations [34].
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ABCC7 p.Gly1047Arg 16275171:176:25
status: NEW79 Thereafter, the longitudinal patterns of WCXR and BCXR for the two patients with novel mutations (i.e., G1047R and 1525-2AYG) were superimposed on the Table 1 Summary of patient characteristics Characteristics F508del homozygote group (n =38) Pancreatic sufficiency groupa (n =19) Sex Male 25 8 Female 13 11 Center Madison 21 12 Milwaukee 17 7 Group Screened 38 3 Control 0 14 Other 0 2 Meconium ileus Yes 6 0 No 32 19 Mean age at diagnosis (weeks)TS.D. 7.15T2.4 193.1T192 Mean sweat Cl mEq/lTS.D.
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ABCC7 p.Gly1047Arg 16275171:79:104
status: NEW100 Two novel mutations for North American CF patients were discovered during our investigation process, namely G1047R (patient #1) and 1525-2AYG (patient #2).
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ABCC7 p.Gly1047Arg 16275171:100:108
status: NEW118 G1047R describes a guanine to cytosine base-pair substitution in the 1047th codon which would lead to a missense mutation, changing glycine to arginine.
X
ABCC7 p.Gly1047Arg 16275171:118:0
status: NEW121 The patient`s genotype of F508del/G1047R or class II/I would suggest a ''severe`` phenotype as both mutations lead to a loss of functional CFTR protein at the apical cell membrane.
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ABCC7 p.Gly1047Arg 16275171:121:34
status: NEW129 In addition, their spirometry results are also similar to the WCXR score 0 5 10 15 20 25 30 F508del/F508del Pancreatic sufficiency Patient 1 (F508del/G1047R) WCXR score 0 5 10 15 20 25 30 F508del/F508del Pancreatic sufficiency Patient 2 (G551D/1525-2A->G) 0 1 2 3 4 5 6 7 8 9 10 11 12 Age in years Fig. 3.
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ABCC7 p.Gly1047Arg 16275171:129:150
status: NEW175 The two novel mutations (G1047R and 1525-2AYG) are named following accepted recommendations [34].
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ABCC7 p.Gly1047Arg 16275171:175:25
status: NEW[hide] Distribution of CFTR mutations in the Czech popula... J Cyst Fibros. 2013 Sep;12(5):532-7. doi: 10.1016/j.jcf.2012.12.002. Epub 2012 Dec 29. Krenkova P, Piskackova T, Holubova A, Balascakova M, Krulisova V, Camajova J, Turnovec M, Libik M, Norambuena P, Stambergova A, Dvorakova L, Skalicka V, Bartosova J, Kucerova T, Fila L, Zemkova D, Vavrova V, Koudova M, Macek M, Krebsova A, Macek M Jr
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
J Cyst Fibros. 2013 Sep;12(5):532-7. doi: 10.1016/j.jcf.2012.12.002. Epub 2012 Dec 29., [PMID:23276700]
Abstract [show]
BACKGROUND: This two decade long study presents a comprehensive overview of the CFTR mutation distribution in a representative cohort of 600 Czech CF patients derived from all regions of the Czech Republic. METHODS: We examined the most common CF-causing mutations using the Elucigene CF-EU2v1 assay, followed by MLPA, mutation scanning and/or sequencing of the entire CFTR coding region and splice site junctions. RESULTS: We identified 99.5% of all mutations (1194/1200 CFTR alleles) in the Czech CF population. Altogether 91 different CFTR mutations, of which 20 were novel, were detected. One case of de novo mutation and a novel polymorphism was revealed. CONCLUSION: The commercial assay achieved 90.7%, the MLPA added 1.0% and sequencing increased the detection rate by 7.8%. These comprehensive data provide a basis for the improvement of CF DNA diagnostics and/or newborn screening in our country. In addition, they are relevant to related Central European populations with lower mutation detection rates, as well as to the sizeable North American "Bohemian diaspora".
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No. Sentence Comment
62 There are over 10 million inhabitants in the country, which according to population genetic analyses, is a representative of the CE ethnic composition [3], with significant overlaps with Table 1 (continued) Mutations/HGVS nomenclature/ Mutations/traditional nomenclature, legacy name/ Legacy exon/intron No. of alleles % 65. c.2290CNT R764X# Ex13 1 0.08 66. c.2490+1GNA 2622+1GNA# In13 1 0.08 67. c.2538GNA W846X*# Ex14a 1 0.08 68. c.2551CNT R851X# Ex14a 1 0.08 69. c.2589_2599delAATTTGGTGCT 2721del11 Ex14a 1 0.08 70. c.2705delG 2837delG Ex15 1 0.08 71. c.2789delG 2921delG Ex15 1 0.08 72. c.2803_2813delCTACCACTGGT 2935del11 Ex15 1 0.08 73. c.2856GNC M952I Ex15 1 0.08 74. c.2991GNC L997F# Ex17a 1 0.08 75. c.3106delA 3238delA Ex17a 1 0.08 76. c.3136GNT E1046X Ex17a 1 0.08 77. c.3139GNC G1047R Ex17a 1 0.08 78. c.3196CNT R1066C*# Ex17b 1 0.08 79. c.3196CNG R1066G Ex17b 1 0.08 80. c.3302TNG M1101R Ex17b 1 0.08 81. c.3310GNA E1104K Ex17b 1 0.08 82. c.3353CNT S1118F Ex17b 1 0.08 83. c.3472CNT R1158X*# Ex19 1 0.08 84. c.3587CNG S1196X# Ex19 1 0.08 85. c.3708delT 3840delT Ex19 1 0.08 86. c.3937CNT Q1313X# Ex21 1 0.08 87. c.3971TNC L1324P Ex22 1 0.08 88. c.4003CNT L1335F Ex22 1 0.08 89. c.4004TNC L1335P Ex22 1 0.08 90. c.4097TNA I1366N Ex22 1 0.08 91. c.4426CNT Q1476X Ex24 1 0.08 92.
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ABCC7 p.Gly1047Arg 23276700:62:790
status: NEW[hide] Improving newborn screening for cystic fibrosis us... Genet Med. 2015 Feb 12. doi: 10.1038/gim.2014.209. Baker MW, Atkins AE, Cordovado SK, Hendrix M, Earley MC, Farrell PM
Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
Genet Med. 2015 Feb 12. doi: 10.1038/gim.2014.209., [PMID:25674778]
Abstract [show]
Purpose:Many regions have implemented newborn screening (NBS) for cystic fibrosis (CF) using a limited panel of cystic fibrosis transmembrane regulator (CFTR) mutations after immunoreactive trypsinogen (IRT) analysis. We sought to assess the feasibility of further improving the screening using next-generation sequencing (NGS) technology.Methods:An NGS assay was used to detect 162 CFTR mutations/variants characterized by the CFTR2 project. We used 67 dried blood spots (DBSs) containing 48 distinct CFTR mutations to validate the assay. NGS assay was retrospectively performed on 165 CF screen-positive samples with one CFTR mutation.Results:The NGS assay was successfully performed using DNA isolated from DBSs, and it correctly detected all CFTR mutations in the validation. Among 165 screen-positive infants with one CFTR mutation, no additional disease-causing mutation was identified in 151 samples consistent with normal sweat tests. Five infants had a CF-causing mutation that was not included in this panel, and nine with two CF-causing mutations were identified.Conclusion:The NGS assay was 100% concordant with traditional methods. Retrospective analysis results indicate an IRT/NGS screening algorithm would enable high sensitivity, better specificity and positive predictive value (PPV). This study lays the foundation for prospective studies and for introducing NGS in NBS laboratories.Genet Med advance online publication 12 February 2015Genetics in Medicine (2015); doi:10.1038/gim.2014.209.
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No. Sentence Comment
101 Because Wisconsin has genotype data on more than 500 patients with CF diagnosed through screening, we sought to understand how many CF cases have uncommon mutations not currently on the CFTR2 list; we found the five cases reported herein as well as other ones found previously, including G1047R, also referred to as 3139 G>C (c.3271G>C), Y849X (c.2679C>A), and 2043delG (c.2043delG).
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ABCC7 p.Gly1047Arg 25674778:101:288
status: NEW