Variant (CDS) | Variant (protein) | Variant Type | Variant Effect | Genomic Location (GRCh37) | ExAC Frequency |
c.36508G>A | p.E12170K (Glu > Lys) | substitution | missense | chr2:179528378 (reverse strand) | 0.14758806 |
As this variant is present at a population frequency of 0.14758806 (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 | 0.06323684 4098 / 64804 | 0.47385331 4277 / 9026 | 0.13354973 1152 / 8626 | 0.24348879 4020 / 16510 | 0.25306934 2927 / 11566 | 0.12579377 832 / 6614 | 0.12892377 115 / 892 | 0.14758806 17421 / 118038 |
ESP | 0.05600 223 / 3982 |
0.47317 829 / 1752 |
0.18347 1052 / 5734 |
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1KG |
0.06312 51 / 808 |
0.50303 665 / 1322 |
0.13393 135 / 1008 |
0.26994 264 / 978 |
0.22767 158 / 694 |
0.12626 25 / 198 |
0.25919 1298 / 5008 |
0.06044 11 / 182 British |
0.44262 54 / 122 African-American |
0.15591 29 / 186 Chinese Dai |
0.34302 59 / 172 Bengali |
0.21809 41 / 188 Colombian |
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0.05607 12 / 214 Iberian |
0.48958 94 / 192 African-Caribbean |
0.11650 24 / 206 Han, Beijing |
0.23786 49 / 206 Gujarati Indian |
0.26562 34 / 128 Mexican, LA |
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0.06542 14 / 214 Toscani |
0.58081 115 / 198 Esan, Nigeria |
0.08654 18 / 208 Japanese |
0.26961 55 / 204 Indian Telugu |
0.31176 53 / 170 Peruvian |
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0.07071 14 / 198 Utah Europeans |
0.51327 116 / 226 Gambian |
0.17172 34 / 198 Kinh, Vietnam |
0.25000 48 / 192 Punjabi, Lahore |
0.14423 30 / 208 Puerto Rican |
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0.49495 98 / 198 Luhya, Kenya |
0.14286 30 / 210 Southern Han |
0.25980 53 / 204 Tamil |
||||||
0.47059 80 / 170 Mende |
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0.50000 108 / 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 0% of algorithms have predicted that this variant will adversely affect protein function |
tolerated | moderately conservative | |||
LRT | MutationTaster | MutationAssessor | FATHMM | |
polymorphism (auto) |
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.