Variant (CDS) | Variant (protein) | Variant Type | Variant Effect | Genomic Location (GRCh37) | ExAC Frequency |
c.8492G>A | p.S2831N (Ser > Asn) | substitution | missense | chr2:179634936 (reverse strand) | 0.07593810 |
As this variant is present at a population frequency of 0.07593810 (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 | 0.04755911 3174 / 66738 | 0.01049490 109 / 10386 | 0.20988655 1813 / 8638 | 0.04215116 696 / 16512 | 0.25912156 2997 / 11566 | 0.05745389 380 / 6614 | 0.05176211 47 / 908 | 0.07593810 9216 / 121362 |
ESP | 0.04512 388 / 8600 |
0.01339 59 / 4406 |
0.03437 447 / 13006 |
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1KG |
0.04950 40 / 808 |
0.00227 3 / 1322 |
0.19048 192 / 1008 |
0.04192 41 / 978 |
0.17291 120 / 694 |
0.05556 11 / 198 |
0.08127 407 / 5008 |
0.04396 8 / 182 British |
0.01639 2 / 122 African-American |
0.14516 27 / 186 Chinese Dai |
0.04070 7 / 172 Bengali |
0.09043 17 / 188 Colombian |
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0.04673 10 / 214 Iberian |
0.00521 1 / 192 African-Caribbean |
0.19903 41 / 206 Han, Beijing |
0.01456 3 / 206 Gujarati Indian |
0.17969 23 / 128 Mexican, LA |
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0.02804 6 / 214 Toscani |
0.00000 0 / 198 Esan, Nigeria |
0.23558 49 / 208 Japanese |
0.03922 8 / 204 Indian Telugu |
0.38235 65 / 170 Peruvian |
||||
0.08081 16 / 198 Utah Europeans |
0.00000 0 / 226 Gambian |
0.14646 29 / 198 Kinh, Vietnam |
0.08854 17 / 192 Punjabi, Lahore |
0.07212 15 / 208 Puerto Rican |
||||
0.00000 0 / 198 Luhya, Kenya |
0.21905 46 / 210 Southern Han |
0.02941 6 / 204 Tamil |
||||||
0.00000 0 / 170 Mende |
||||||||
0.00000 0 / 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 | 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.