STUB1 : c.786+7delC

STUB1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.786+7delCdeletionsplice site chr16:732288 (forward strand)0.51577135

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.51577135 (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
ExAC0.41040445
27012 / 65818		0.66511176
6844 / 10290		0.70569767
6069 / 8600		0.69974555
11550 / 16506		0.60012157
6911 / 11516		0.49195507
3241 / 6588		0.42000000
378 / 900		0.51577135
62005 / 120218
ESP 0.40584
3349 / 8252		 0.65439
2789 / 4262		 0.49049
6138 / 12514
1KG
 0.37871
306 / 808		 0.70499
932 / 1322		 0.71528
721 / 1008		 0.71779
702 / 978		 0.49856
346 / 694		 0.55556
110 / 198		 0.62240
3117 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.40659
74 / 182
British
0.62295
76 / 122
African-American
0.68817
128 / 186
Chinese Dai
0.66860
115 / 172
Bengali
0.43085
81 / 188
Colombian
0.34112
73 / 214
Iberian
0.65625
126 / 192
African-Caribbean
0.68447
141 / 206
Han, Beijing
0.69903
144 / 206
Gujarati Indian
0.62500
80 / 128
Mexican, LA
0.33178
71 / 214
Toscani
0.74242
147 / 198
Esan, Nigeria
0.77885
162 / 208
Japanese
0.72059
147 / 204
Indian Telugu
0.62353
106 / 170
Peruvian
0.44444
88 / 198
Utah Europeans
0.78319
177 / 226
Gambian
0.72222
143 / 198
Kinh, Vietnam
0.75521
145 / 192
Punjabi, Lahore
0.37981
79 / 208
Puerto Rican
0.69697
138 / 198
Luhya, Kenya
0.70000
147 / 210
Southern Han
0.74020
151 / 204
Tamil
0.67059
114 / 170
Mende
0.71296
154 / 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 ENST00000219548 NM_005861.2
Protein ENSP00000219548 Q9UNE7



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.