ABCC7 p.Gly480Asp
| ClinVar: |
c.1439G>A
,
p.Gly480Asp
?
, not provided
c.1438G>A , p.Gly480Ser ? , not provided c.1438G>T , p.Gly480Cys D , Pathogenic |
| CF databases: |
c.1439G>A
,
p.Gly480Asp
(CFTR1)
D
, The above mutation was detected by SSCP and identified by direct DNA sequencing. G480D was found in a CF patient from the West Midlands, who had meconium ileus and whose other chromosome carries [delta]F508; it was seen only once in 100 non-[delta]F508 chromosome screened.
c.1438G>A , p.Gly480Ser (CFTR1) ? , The mutation was detected in a 1 year old patient by multiple heteroduplex analysis on the MDE gel matrix. The patient was heterozygous for the A559T mutation. c.1438G>T , p.Gly480Cys (CFTR1) ? , This mutation was found in an American Black patient who has an unknown mutation on the other chromosome and is pancreatic insufficient. This mutation was found in one additional non-[delta]F508 CF chromosome of 378 tested. It was not found in over 700[delta]F508 chromosomes, nor in a small number of normal chromosomes. |
| Predicted by SNAP2: | A: D (95%), C: N (53%), D: D (95%), E: D (95%), F: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[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
78 Table 3ߒ Affected cases without the second mutation detected from the next-generation sequencing panel Case no. IRT (ng/ml) Second-tier DNA Sweat chloride (mmol/l) Clinical assessment Additional information Test 1 Test 2 1 237 F508del 134.1 Quantity not sufficient CF - 2 102 2789ߙ+ߙ5G>A 56.3 53.7 CRMS c.2909-15T>G identified by DNA sequencing 3 101 N1303K 79 75 CF No CFTR gene deletion was identified by Multiplex ligation-dependent probe amplification 4 144 F508del 100 87 CF G480D identified by DNA sequencing 5 58 F508del 55.2 55.1 CRMS - CF, cystic fibrosis; CRMS, CFTR-related metabolic syndrome; IRT, immunoreactive trypsinogen.
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ABCC7 p.Gly480Asp 25674778:78:498
status: NEW