Variant (CDS) | Variant (protein) | Variant Type | Variant Effect | Genomic Location (GRCh37) | ExAC Frequency |
c.79862C>T | p.T26621M (Thr > Met) | substitution | missense | chr2:179430997 (reverse strand) | 0.23430820 |
As this variant is present at a population frequency of 0.23430820 (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 | 0.16906432 11282 / 66732 | 0.33309529 3265 / 9802 | 0.60610296 5204 / 8586 | 0.30735223 5075 / 16512 | 0.18674282 2158 / 11556 | 0.16515426 1092 / 6612 | 0.22777778 205 / 900 | 0.23430820 28281 / 120700 |
ESP | 0.16687 1385 / 8300 |
0.32734 1257 / 3840 |
0.21763 2642 / 12140 |
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1KG |
0.16955 137 / 808 |
0.34418 455 / 1322 |
0.62897 634 / 1008 |
0.31697 310 / 978 |
0.20605 143 / 694 |
0.17677 35 / 198 |
0.34225 1714 / 5008 |
0.17033 31 / 182 British |
0.29508 36 / 122 African-American |
0.73118 136 / 186 Chinese Dai |
0.37791 65 / 172 Bengali |
0.22340 42 / 188 Colombian |
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0.18224 39 / 214 Iberian |
0.29167 56 / 192 African-Caribbean |
0.57767 119 / 206 Han, Beijing |
0.28641 59 / 206 Gujarati Indian |
0.14844 19 / 128 Mexican, LA |
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0.19159 41 / 214 Toscani |
0.40909 81 / 198 Esan, Nigeria |
0.59135 123 / 208 Japanese |
0.30882 63 / 204 Indian Telugu |
0.20000 34 / 170 Peruvian |
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0.13131 26 / 198 Utah Europeans |
0.37611 85 / 226 Gambian |
0.63636 126 / 198 Kinh, Vietnam |
0.31250 60 / 192 Punjabi, Lahore |
0.23077 48 / 208 Puerto Rican |
||||
0.30303 60 / 198 Luhya, Kenya |
0.61905 130 / 210 Southern Han |
0.30882 63 / 204 Tamil |
||||||
0.35882 61 / 170 Mende |
||||||||
0.35185 76 / 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 50% of algorithms have predicted that this variant will adversely affect protein function |
damaging | moderately conservative | possibly damaging | possibly damaging | |
LRT | MutationTaster | MutationAssessor | FATHMM | |
polymorphism (auto) | medium impact | 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.