Variant (CDS) | Variant (protein) | Variant Type | Variant Effect | Genomic Location (GRCh37) | ExAC Frequency |
c.25064C>A | p.A8355E (Ala > Glu) | substitution | missense | chr2:179582537 (reverse strand) | 0.30876983 |
As this variant is present at a population frequency of 0.30876983 (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 | 0.20370827 13228 / 64936 | 0.42477316 4026 / 9478 | 0.66579136 5578 / 8378 | 0.44837513 7009 / 15632 | 0.41845910 4747 / 11344 | 0.20590923 1352 / 6566 | 0.28668172 254 / 886 | 0.30876983 36194 / 117220 |
ESP | 0.20183 1653 / 8190 |
0.40752 1507 / 3698 |
0.26581 3160 / 11888 |
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1KG |
0.22649 183 / 808 |
0.46369 613 / 1322 |
0.65774 663 / 1008 |
0.47342 463 / 978 |
0.37896 263 / 694 |
0.21717 43 / 198 |
0.44489 2228 / 5008 |
0.26374 48 / 182 British |
0.45902 56 / 122 African-American |
0.69892 130 / 186 Chinese Dai |
0.52326 90 / 172 Bengali |
0.35638 67 / 188 Colombian |
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0.21495 46 / 214 Iberian |
0.42708 82 / 192 African-Caribbean |
0.62621 129 / 206 Han, Beijing |
0.41262 85 / 206 Gujarati Indian |
0.37500 48 / 128 Mexican, LA |
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0.23364 50 / 214 Toscani |
0.47980 95 / 198 Esan, Nigeria |
0.59615 124 / 208 Japanese |
0.48529 99 / 204 Indian Telugu |
0.50588 86 / 170 Peruvian |
||||
0.19697 39 / 198 Utah Europeans |
0.53540 121 / 226 Gambian |
0.67172 133 / 198 Kinh, Vietnam |
0.45833 88 / 192 Punjabi, Lahore |
0.29808 62 / 208 Puerto Rican |
||||
0.41414 82 / 198 Luhya, Kenya |
0.70000 147 / 210 Southern Han |
0.49510 101 / 204 Tamil |
||||||
0.50588 86 / 170 Mende |
||||||||
0.42130 91 / 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 radical | |||
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.