Variant (CDS) | Variant (protein) | Variant Type | Variant Effect | Genomic Location (GRCh37) | ExAC Frequency |
c.29153T>C | p.I9718T (Ile > Thr) | substitution | missense | chr2:179571448 (reverse strand) | 0.07969968 |
As this variant is present at a population frequency of 0.07969968 (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 | 0.02803205 1868 / 66638 | 0.20759339 2034 / 9798 | 0.02770693 239 / 8626 | 0.16760049 2752 / 16420 | 0.19490644 2250 / 11544 | 0.05820986 385 / 6614 | 0.08777778 79 / 900 | 0.07969968 9607 / 120540 |
ESP | 0.02614 213 / 8148 |
0.19396 713 / 3676 |
0.07832 926 / 11824 |
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1KG |
0.02723 22 / 808 |
0.22315 295 / 1322 |
0.02579 26 / 1008 |
0.17689 173 / 978 |
0.15562 108 / 694 |
0.07071 14 / 198 |
0.12740 638 / 5008 |
0.03297 6 / 182 British |
0.27869 34 / 122 African-American |
0.04301 8 / 186 Chinese Dai |
0.19767 34 / 172 Bengali |
0.17021 32 / 188 Colombian |
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0.02336 5 / 214 Iberian |
0.21354 41 / 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 |
0.22222 44 / 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 |
0.24336 55 / 226 Gambian |
0.06566 13 / 198 Kinh, Vietnam |
0.14583 28 / 192 Punjabi, Lahore |
0.06250 13 / 208 Puerto Rican |
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0.23737 47 / 198 Luhya, Kenya |
0.00952 2 / 210 Southern Han |
0.21078 43 / 204 Tamil |
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0.23529 40 / 170 Mende |
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0.15741 34 / 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 12.5% of algorithms have predicted that this variant will adversely affect protein function |
damaging | moderately conservative | benign | benign | |
LRT | MutationTaster | MutationAssessor | FATHMM | |
polymorphism (auto) | neutral | 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.