Variant (CDS) | Variant (protein) | Variant Type | Variant Effect | Genomic Location (GRCh37) | ExAC Frequency |
c.25921+10C>T | substitution | splice site | chr2:179580210 (reverse strand) | 0.07605923 |
As this variant is present at a population frequency of 0.07605923 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.
DCM | OMGL: Detected in 0 / 304 DCM patients. LMM: Detected in 0 / 156 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 | 0.02778371 1821 / 65542 | 0.15350697 1497 / 9752 | 0.02773246 238 / 8582 | 0.18953223 2658 / 14024 | 0.19252222 2209 / 11474 | 0.05850258 386 / 6598 | 0.08974359 77 / 858 | 0.07605923 8886 / 116830 |
ESP | 0.00000 0 / 8600 |
0.00000 0 / 4400 |
0.00000 0 / 13000 |
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1KG |
0.02723 22 / 808 |
0.16490 218 / 1322 |
0.02579 26 / 1008 |
0.17587 172 / 978 |
0.15274 106 / 694 |
0.07071 14 / 198 |
0.11142 558 / 5008 |
0.03297 6 / 182 British |
0.22131 27 / 122 African-American |
0.04301 8 / 186 Chinese Dai |
0.19767 34 / 172 Bengali |
0.16489 31 / 188 Colombian |
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0.02336 5 / 214 Iberian |
0.16146 31 / 192 African-Caribbean |
0.01456 3 / 206 Han, Beijing |
0.16505 34 / 206 Gujarati Indian |
0.18750 24 / 128 Mexican, LA |
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0.02336 5 / 214 Toscani |
0.17677 35 / 198 Esan, Nigeria |
0.00000 0 / 208 Japanese |
0.16667 34 / 204 Indian Telugu |
0.22941 39 / 170 Peruvian |
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0.03030 6 / 198 Utah Europeans |
0.18584 42 / 226 Gambian |
0.06566 13 / 198 Kinh, Vietnam |
0.14583 28 / 192 Punjabi, Lahore |
0.05769 12 / 208 Puerto Rican |
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0.15657 31 / 198 Luhya, Kenya |
0.00952 2 / 210 Southern Han |
0.20588 42 / 204 Tamil |
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0.15882 27 / 170 Mende |
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0.11574 25 / 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 | ENST00000589042 | LRG_391t1 | NM_001267550.1 | |
Protein | ENSP00000467141 | LRG_391p1 |
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.