Variant (CDS) | Variant (protein) | Variant Type | Variant Effect | Genomic Location (GRCh37) | ExAC Frequency |
c.10726G>A | p.A3576T (Ala > Thr) | substitution | missense | chr2:179621477 (reverse strand) | 0.99968490 |
As this variant is present at a population frequency of 0.99968490 (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 | 1.00000000 66684 / 66684 | 0.99622449 9763 / 9800 | 1.00000000 8580 / 8580 | 1.00000000 16510 / 16510 | 0.99991315 11513 / 11514 | 1.00000000 6610 / 6610 | 1.00000000 900 / 900 | 0.99968490 120560 / 120598 |
ESP | 1.00000 8244 / 8600 |
0.99737 3786 / 3796 |
0.99917 12030 / 12396 |
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1KG |
1.00000 808 / 808 |
0.99622 1317 / 1322 |
1.00000 1008 / 1008 |
1.00000 978 / 978 |
1.00000 694 / 694 |
1.00000 198 / 198 |
0.99900 5003 / 5008 |
1.00000 182 / 182 British |
0.99180 121 / 122 African-American |
1.00000 186 / 186 Chinese Dai |
1.00000 172 / 172 Bengali |
1.00000 188 / 188 Colombian |
||||
1.00000 214 / 214 Iberian |
0.99479 191 / 192 African-Caribbean |
1.00000 206 / 206 Han, Beijing |
1.00000 206 / 206 Gujarati Indian |
1.00000 128 / 128 Mexican, LA |
||||
1.00000 214 / 214 Toscani |
0.98990 196 / 198 Esan, Nigeria |
1.00000 208 / 208 Japanese |
1.00000 204 / 204 Indian Telugu |
1.00000 170 / 170 Peruvian |
||||
1.00000 198 / 198 Utah Europeans |
1.00000 226 / 226 Gambian |
1.00000 198 / 198 Kinh, Vietnam |
1.00000 192 / 192 Punjabi, Lahore |
1.00000 208 / 208 Puerto Rican |
||||
1.00000 198 / 198 Luhya, Kenya |
1.00000 210 / 210 Southern Han |
1.00000 204 / 204 Tamil |
||||||
0.99412 169 / 170 Mende |
||||||||
1.00000 216 / 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) | 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.