Variant (CDS) | Variant (protein) | Variant Type | Variant Effect | Genomic Location (GRCh37) | ExAC Frequency |
c.2432C>T | p.T811I (Thr > Ile) | substitution | missense | chr2:179650408 (reverse strand) | 0.16907050 |
As this variant is present at a population frequency of 0.16907050 (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 | 0.23829296 15897 / 66712 | 0.10611303 1104 / 10404 | 0.00011593 1 / 8626 | 0.07710478 1273 / 16510 | 0.10897769 1260 / 11562 | 0.12250454 810 / 6612 | 0.18612335 169 / 908 | 0.16907050 20514 / 121334 |
ESP | 0.23453 2017 / 8600 |
0.10213 450 / 4406 |
0.18968 2467 / 13006 |
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1KG |
0.23515 190 / 808 |
0.08623 114 / 1322 |
0.00099 1 / 1008 |
0.06851 67 / 978 |
0.14986 104 / 694 |
0.13636 27 / 198 |
0.10044 503 / 5008 |
0.20330 37 / 182 British |
0.12295 15 / 122 African-American |
0.00000 0 / 186 Chinese Dai |
0.02326 4 / 172 Bengali |
0.17553 33 / 188 Colombian |
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0.24766 53 / 214 Iberian |
0.10417 20 / 192 African-Caribbean |
0.00000 0 / 206 Han, Beijing |
0.07767 16 / 206 Gujarati Indian |
0.13281 17 / 128 Mexican, LA |
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0.26168 56 / 214 Toscani |
0.05556 11 / 198 Esan, Nigeria |
0.00000 0 / 208 Japanese |
0.10294 21 / 204 Indian Telugu |
0.08235 14 / 170 Peruvian |
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0.22222 44 / 198 Utah Europeans |
0.03982 9 / 226 Gambian |
0.00505 1 / 198 Kinh, Vietnam |
0.07812 15 / 192 Punjabi, Lahore |
0.19231 40 / 208 Puerto Rican |
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0.16162 32 / 198 Luhya, Kenya |
0.00000 0 / 210 Southern Han |
0.05392 11 / 204 Tamil |
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0.04706 8 / 170 Mende |
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0.08796 19 / 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 25% of algorithms have predicted that this variant will adversely affect protein function |
damaging | moderately conservative | probably damaging | ||
LRT | MutationTaster | MutationAssessor | FATHMM | |
polymorphism (auto) | low 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.