NEBL : c.1008+5A>G

NEBL gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1008+5A>Gsubstitutionsplice site chr10:21141469 (reverse strand)0.97092899

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.97092899 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.99933980
66602 / 66646		0.98057319
10196 / 10398		0.91688039
7865 / 8578		0.98940165
16337 / 16512		0.79429612
9163 / 11536		0.99984867
6607 / 6608		0.98348018
893 / 908		0.97092899
117663 / 121186
ESP 0.99942
8595 / 8600		 0.97980
4317 / 4406		 0.99277
12912 / 13006
1KG
 0.99752
806 / 808		 0.98109
1297 / 1322		 0.91171
919 / 1008		 0.99182
970 / 978		 0.83573
580 / 694		 1.00000
198 / 198		 0.95248
4770 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

1.00000
182 / 182
British
0.96721
118 / 122
African-American
0.88710
165 / 186
Chinese Dai
0.97674
168 / 172
Bengali
0.93085
175 / 188
Colombian
0.99533
213 / 214
Iberian
0.96354
185 / 192
African-Caribbean
0.87864
181 / 206
Han, Beijing
1.00000
206 / 206
Gujarati Indian
0.82031
105 / 128
Mexican, LA
1.00000
214 / 214
Toscani
0.98990
196 / 198
Esan, Nigeria
0.95192
198 / 208
Japanese
0.99510
203 / 204
Indian Telugu
0.63529
108 / 170
Peruvian
0.99495
197 / 198
Utah Europeans
0.98673
223 / 226
Gambian
0.93434
185 / 198
Kinh, Vietnam
1.00000
192 / 192
Punjabi, Lahore
0.92308
192 / 208
Puerto Rican
0.98990
196 / 198
Luhya, Kenya
0.90476
190 / 210
Southern Han
0.98529
201 / 204
Tamil
0.98824
168 / 170
Mende
0.97685
211 / 216
Yoruba, Nigeria

The Exome Aggregation Consortium (ExAC) is a database of 60,706 unrelated individuals sequenced as part of various disease-specific and population genetic studies. There is partial overlap between ExAC and 1000 Genomes (1KG) (1,851 of the 2,504 samples in 1KG) and the Exome Sequencing Project (ESP) (3,936 of the 6,500 samples in ESP).


Other Variant & Gene Details

Canonical Sequences
Transcript ENST00000377122 LRG_411t2NM_006393.2
Protein ENSP00000366326 LRG_411p2O76041



References

1. Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2016 doi:10.1038/gim.2016.90.

2. Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014 Aug;16(8):601-8.

3. Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Nov;17(11):880-8.