NEBL : c.259-8delT

NEBL gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.259-8delTdeletionsplice site chr10:21177144 (reverse strand)0.00416788

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.00416788 (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
ExAC0.00118093
71 / 60122		0.03282345
309 / 9414		0.00106383
8 / 7520		0.00195746
30 / 15326		0.00362674
37 / 10202		0.00016057
1 / 6228		0.00119617
1 / 836		0.00416788
457 / 109648
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.00497
4 / 805		 0.04559
47 / 1031		 0.00000
0 / 979		 0.00308
3 / 975		 0.00292
2 / 684		 0.00000
0 / 198		 0.01199
56 / 4672
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00549
1 / 182
British
0.02913
3 / 103
African-American
0.00000
0 / 180
Chinese Dai
0.00000
0 / 171
Bengali
0.00000
0 / 186
Colombian
0.00472
1 / 212
Iberian
0.02837
4 / 141
African-Caribbean
0.00000
0 / 202
Han, Beijing
0.00000
0 / 206
Gujarati Indian
0.00800
1 / 125
Mexican, LA
0.00939
2 / 213
Toscani
0.08219
12 / 146
Esan, Nigeria
0.00000
0 / 198
Japanese
0.00990
2 / 202
Indian Telugu
0.00595
1 / 168
Peruvian
0.00000
0 / 198
Utah Europeans
0.07027
13 / 185
Gambian
0.00000
0 / 196
Kinh, Vietnam
0.00521
1 / 192
Punjabi, Lahore
0.00000
0 / 205
Puerto Rican
0.05229
8 / 153
Luhya, Kenya
0.00000
0 / 203
Southern Han
0.00000
0 / 204
Tamil
0.04861
7 / 144
Mende
0.00000
0 / 159
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.