Variant (CDS) | Variant (protein) | Variant Type | Variant Effect | Genomic Location (GRCh37) | ExAC Frequency |
c.464-8A>C | substitution | splice site | chr1:237540615 (forward strand) | 0.30214740 |
As this variant is present at a population frequency of 0.30214740 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.
DCM | LMM: Detected in 0 / 121 DCM patients. |
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For more information on the clinical significance of this variant, please see the ClinVar entry.
Database | European | African | East Asian | South Asian | American | Finnish | Other | Total |
---|---|---|---|---|---|---|---|---|
ExAC | 0.24819747 15766 / 63522 | 0.51179444 4860 / 9496 | 0.44701671 3746 / 8380 | 0.22780311 3397 / 14912 | 0.37990061 4128 / 10866 | 0.37577447 2426 / 6456 | 0.31490385 262 / 832 | 0.30214740 34585 / 114464 |
ESP | 0.22932 1891 / 8246 |
0.46799 1769 / 3780 |
0.30434 3660 / 12026 |
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1KG |
0.20668 167 / 808 |
0.54841 725 / 1322 |
0.43155 435 / 1008 |
0.18507 181 / 978 |
0.34294 238 / 694 |
0.35859 71 / 198 |
0.36282 1817 / 5008 |
0.15385 28 / 182 British |
0.39344 48 / 122 African-American |
0.33871 63 / 186 Chinese Dai |
0.22674 39 / 172 Bengali |
0.31383 59 / 188 Colombian |
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0.21495 46 / 214 Iberian |
0.58333 112 / 192 African-Caribbean |
0.47087 97 / 206 Han, Beijing |
0.16505 34 / 206 Gujarati Indian |
0.30469 39 / 128 Mexican, LA |
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0.25701 55 / 214 Toscani |
0.53030 105 / 198 Esan, Nigeria |
0.52885 110 / 208 Japanese |
0.16176 33 / 204 Indian Telugu |
0.35294 60 / 170 Peruvian |
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0.19192 38 / 198 Utah Europeans |
0.58407 132 / 226 Gambian |
0.39394 78 / 198 Kinh, Vietnam |
0.21875 42 / 192 Punjabi, Lahore |
0.38462 80 / 208 Puerto Rican |
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0.57576 114 / 198 Luhya, Kenya |
0.41429 87 / 210 Southern Han |
0.16176 33 / 204 Tamil |
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0.58235 99 / 170 Mende |
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0.53241 115 / 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 | ENST00000366574 | LRG_402t1 | NM_001035.2 | |
Protein | ENSP00000355533 | LRG_402p1 | Q92736 |
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.