NEBL : c.1671+9T>C

NEBL gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1671+9T>Csubstitutionsplice site chr10:21120116 (reverse strand)0.38930519

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.38930519 (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
ExAC0.35027415
23254 / 66388		0.60678952
6256 / 10310		0.55215154
4722 / 8552		0.43190095
7116 / 16476		0.30912754
3529 / 11416		0.26676783
1758 / 6590		0.36423841
330 / 906		0.38930519
46965 / 120638
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.36139
292 / 808		 0.63540
840 / 1322		 0.52778
532 / 1008		 0.43354
424 / 978		 0.29107
202 / 694		 0.29798
59 / 198		 0.46905
2349 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.36264
66 / 182
British
0.61475
75 / 122
African-American
0.56989
106 / 186
Chinese Dai
0.50581
87 / 172
Bengali
0.29787
56 / 188
Colombian
0.41121
88 / 214
Iberian
0.64583
124 / 192
African-Caribbean
0.48058
99 / 206
Han, Beijing
0.38835
80 / 206
Gujarati Indian
0.36719
47 / 128
Mexican, LA
0.34579
74 / 214
Toscani
0.60101
119 / 198
Esan, Nigeria
0.47115
98 / 208
Japanese
0.46078
94 / 204
Indian Telugu
0.16471
28 / 170
Peruvian
0.32323
64 / 198
Utah Europeans
0.63274
143 / 226
Gambian
0.53030
105 / 198
Kinh, Vietnam
0.39583
76 / 192
Punjabi, Lahore
0.34135
71 / 208
Puerto Rican
0.63131
125 / 198
Luhya, Kenya
0.59048
124 / 210
Southern Han
0.42647
87 / 204
Tamil
0.66471
113 / 170
Mende
0.65278
141 / 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.