Variant (CDS) | Variant (protein) | Variant Type | Variant Effect | Genomic Location (GRCh37) | ExAC Frequency |
c.22384G>C | p.D7462H (Asp > His) | substitution | missense | chr2:179587130 (reverse strand) | 0.17860474 |
As this variant is present at a population frequency of 0.17860474 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.
The role on non-truncating TTN variants in cardiac disease has not yet been analysed in these studies.
Database | European | African | East Asian | South Asian | American | Finnish | Other | Total |
---|---|---|---|---|---|---|---|---|
ExAC | 0.14573478 9673 / 66374 | 0.17012108 1658 / 9746 | 0.42698338 3649 / 8546 | 0.22485135 3706 / 16482 | 0.17496506 2003 / 11448 | 0.09396787 620 / 6598 | 0.15590200 140 / 898 | 0.17860474 21449 / 120092 |
ESP | 0.15235 1252 / 8218 |
0.16792 623 / 3710 |
0.15719 1875 / 11928 |
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1KG |
0.17450 141 / 808 |
0.20197 267 / 1322 |
0.43750 441 / 1008 |
0.24744 242 / 978 |
0.18444 128 / 694 |
0.09091 18 / 198 |
0.24700 1237 / 5008 |
0.20879 38 / 182 British |
0.17213 21 / 122 African-American |
0.51075 95 / 186 Chinese Dai |
0.25000 43 / 172 Bengali |
0.18085 34 / 188 Colombian |
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0.17290 37 / 214 Iberian |
0.17708 34 / 192 African-Caribbean |
0.39320 81 / 206 Han, Beijing |
0.21845 45 / 206 Gujarati Indian |
0.13281 17 / 128 Mexican, LA |
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0.18692 40 / 214 Toscani |
0.17677 35 / 198 Esan, Nigeria |
0.38462 80 / 208 Japanese |
0.25980 53 / 204 Indian Telugu |
0.20000 34 / 170 Peruvian |
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0.13131 26 / 198 Utah Europeans |
0.23451 53 / 226 Gambian |
0.44444 88 / 198 Kinh, Vietnam |
0.24479 47 / 192 Punjabi, Lahore |
0.20673 43 / 208 Puerto Rican |
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0.19697 39 / 198 Luhya, Kenya |
0.46190 97 / 210 Southern Han |
0.26471 54 / 204 Tamil |
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0.24118 41 / 170 Mende |
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0.20370 44 / 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 |
Missense Variant Predictions | ||||
---|---|---|---|---|
SIFT | Grantham | Polyphen-DIV | Polyphen-VAR | Summary 50% of algorithms have predicted that this variant will adversely affect protein function |
damaging | moderately conservative | probably damaging | probably damaging | |
LRT | MutationTaster | MutationAssessor | FATHMM | |
polymorphism (auto) | medium impact | tolerated |
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.