Variant (CDS) | Variant (protein) | Variant Type | Variant Effect | Genomic Location (GRCh37) | ExAC Frequency |
c.16405+6_16405+7insG | insertion | splice site | chr1:228523005-228523006 (forward strand) | 0.39772727 |
As this variant is present at a population frequency of 0.39772727 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.
Database | European | African | East Asian | South Asian | American | Finnish | Other | Total |
---|---|---|---|---|---|---|---|---|
ExAC | 0.44736842 442 / 988 | 0.42857143 42 / 98 | 0.53125000 34 / 64 | 0.37568843 955 / 2542 | 0.37500000 12 / 32 | 0.00000000 0 / 0 | 0.33333333 20 / 60 | 0.39772727 1505 / 3784 |
ESP | 0.42531 763 / 8600 |
0.39535 306 / 4400 |
0.27002 1069 / 13000 |
|||||
1KG |
0.47525 384 / 808 |
0.48714 644 / 1322 |
0.57341 578 / 1008 |
0.38344 375 / 978 |
0.36311 252 / 694 |
0.59596 118 / 198 |
0.46945 2351 / 5008 |
0.49451 90 / 182 British |
0.49180 60 / 122 African-American |
0.59140 110 / 186 Chinese Dai |
0.37209 64 / 172 Bengali |
0.32447 61 / 188 Colombian |
||||
0.48131 103 / 214 Iberian |
0.43750 84 / 192 African-Caribbean |
0.50485 104 / 206 Han, Beijing |
0.37864 78 / 206 Gujarati Indian |
0.36719 47 / 128 Mexican, LA |
||||
0.46729 100 / 214 Toscani |
0.50505 100 / 198 Esan, Nigeria |
0.61058 127 / 208 Japanese |
0.38725 79 / 204 Indian Telugu |
0.24706 42 / 170 Peruvian |
||||
0.45960 91 / 198 Utah Europeans |
0.46460 105 / 226 Gambian |
0.57576 114 / 198 Kinh, Vietnam |
0.38542 74 / 192 Punjabi, Lahore |
0.49038 102 / 208 Puerto Rican |
||||
0.48990 97 / 198 Luhya, Kenya |
0.58571 123 / 210 Southern Han |
0.39216 80 / 204 Tamil |
||||||
0.51176 87 / 170 Mende |
||||||||
0.51389 111 / 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).
Canonical Sequences | ||||
---|---|---|---|---|
Transcript | ENST00000284548 | LRG_412t1 | NM_052843.2 | |
Protein | ENSP00000284548 | LRG_412p1 |
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.