Variant (CDS) | Variant (protein) | Variant Type | Variant Effect | Genomic Location (GRCh37) | ExAC Frequency |
c.33287G>A | p.R11096H (Arg > His) | substitution | missense | chr2:179545859 (reverse strand) | 0.23472974 |
As this variant is present at a population frequency of 0.23472974 (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 | 0.30045027 19751 / 65738 | 0.04746639 459 / 9670 | 0.03688043 314 / 8514 | 0.21342955 3490 / 16352 | 0.09793447 1100 / 11232 | 0.39476103 2577 / 6528 | 0.25168539 224 / 890 | 0.23472974 27915 / 118924 |
ESP | 0.30315 2467 / 8138 |
0.05278 190 / 3600 |
0.22636 2657 / 11738 |
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1KG |
0.29332 237 / 808 |
0.00681 9 / 1322 |
0.03571 36 / 1008 |
0.20450 200 / 978 |
0.11239 78 / 694 |
0.35859 71 / 198 |
0.12600 631 / 5008 |
0.33516 61 / 182 British |
0.04098 5 / 122 African-American |
0.03226 6 / 186 Chinese Dai |
0.18605 32 / 172 Bengali |
0.16489 31 / 188 Colombian |
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0.27570 59 / 214 Iberian |
0.00521 1 / 192 African-Caribbean |
0.03883 8 / 206 Han, Beijing |
0.23786 49 / 206 Gujarati Indian |
0.11719 15 / 128 Mexican, LA |
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0.22897 49 / 214 Toscani |
0.00000 0 / 198 Esan, Nigeria |
0.03365 7 / 208 Japanese |
0.17647 36 / 204 Indian Telugu |
0.03529 6 / 170 Peruvian |
||||
0.34343 68 / 198 Utah Europeans |
0.00000 0 / 226 Gambian |
0.03535 7 / 198 Kinh, Vietnam |
0.19792 38 / 192 Punjabi, Lahore |
0.12500 26 / 208 Puerto Rican |
||||
0.01515 3 / 198 Luhya, Kenya |
0.03810 8 / 210 Southern Han |
0.22059 45 / 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.