Variant (CDS) | Variant (protein) | Variant Type | Variant Effect | Genomic Location (GRCh37) | ExAC Frequency |
c.17857-9C>A | substitution | splice site | chr1:228529129 (forward strand) | 0.13864465 |
As this variant is present at a population frequency of 0.13864465 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.
Database | European | African | East Asian | South Asian | American | Finnish | Other | Total |
---|---|---|---|---|---|---|---|---|
ExAC | 0.11008820 6565 / 59634 | 0.06121963 514 / 8396 | 0.36195411 2934 / 8106 | 0.16445279 2278 / 13852 | 0.11113297 1130 / 10168 | 0.22240318 1229 / 5526 | 0.14155844 109 / 770 | 0.13864465 14759 / 106452 |
ESP | 0.00000 0 / 8600 |
0.00000 0 / 4400 |
0.00000 0 / 13000 |
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1KG |
0.07550 61 / 808 |
0.04463 59 / 1322 |
0.32837 331 / 1008 |
0.15133 148 / 978 |
0.07205 50 / 694 |
0.21717 43 / 198 |
0.13818 692 / 5008 |
0.08242 15 / 182 British |
0.05738 7 / 122 African-American |
0.31183 58 / 186 Chinese Dai |
0.17442 30 / 172 Bengali |
0.08511 16 / 188 Colombian |
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0.06075 13 / 214 Iberian |
0.02604 5 / 192 African-Caribbean |
0.33495 69 / 206 Han, Beijing |
0.11650 24 / 206 Gujarati Indian |
0.10938 14 / 128 Mexican, LA |
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0.07944 17 / 214 Toscani |
0.02020 4 / 198 Esan, Nigeria |
0.28846 60 / 208 Japanese |
0.22549 46 / 204 Indian Telugu |
0.05882 10 / 170 Peruvian |
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0.08081 16 / 198 Utah Europeans |
0.03097 7 / 226 Gambian |
0.33333 66 / 198 Kinh, Vietnam |
0.14062 27 / 192 Punjabi, Lahore |
0.04808 10 / 208 Puerto Rican |
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0.12626 25 / 198 Luhya, Kenya |
0.37143 78 / 210 Southern Han |
0.10294 21 / 204 Tamil |
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0.02353 4 / 170 Mende |
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0.03241 7 / 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.