Variant (CDS) | Variant (protein) | Variant Type | Variant Effect | Genomic Location (GRCh37) | ExAC Frequency |
c.19604G>A | p.R6535H (Arg > His) | substitution | missense | chr1:228548197 (forward strand) | 0.13112623 |
As this variant is present at a population frequency of 0.13112623 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.
Database | European | African | East Asian | South Asian | American | Finnish | Other | Total |
---|---|---|---|---|---|---|---|---|
ExAC | 0.09956283 5557 / 55814 | 0.10108806 799 / 7904 | 0.35906693 2586 / 7202 | 0.14891120 2284 / 15338 | 0.10335253 1005 / 9724 | 0.19428571 1088 / 5600 | 0.13259669 96 / 724 | 0.13112623 13415 / 102306 |
ESP | 0.08569 710 / 8286 |
0.09867 386 / 3912 |
0.08985 1096 / 12198 |
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1KG |
0.07054 57 / 808 |
0.08321 110 / 1322 |
0.32837 331 / 1008 |
0.15031 147 / 978 |
0.07637 53 / 694 |
0.21212 42 / 198 |
0.14776 740 / 5008 |
0.06593 12 / 182 British |
0.07377 9 / 122 African-American |
0.31183 58 / 186 Chinese Dai |
0.17442 30 / 172 Bengali |
0.08511 16 / 188 Colombian |
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0.06075 13 / 214 Iberian |
0.06771 13 / 192 African-Caribbean |
0.33495 69 / 206 Han, Beijing |
0.11650 24 / 206 Gujarati Indian |
0.10938 14 / 128 Mexican, LA |
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0.07944 17 / 214 Toscani |
0.07071 14 / 198 Esan, Nigeria |
0.28846 60 / 208 Japanese |
0.22549 46 / 204 Indian Telugu |
0.05882 10 / 170 Peruvian |
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0.07576 15 / 198 Utah Europeans |
0.07080 16 / 226 Gambian |
0.33333 66 / 198 Kinh, Vietnam |
0.13542 26 / 192 Punjabi, Lahore |
0.06250 13 / 208 Puerto Rican |
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0.14141 28 / 198 Luhya, Kenya |
0.37143 78 / 210 Southern Han |
0.10294 21 / 204 Tamil |
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0.08235 14 / 170 Mende |
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0.07407 16 / 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 | ENST00000284548 | LRG_412t1 | NM_052843.2 | |
Protein | ENSP00000284548 | LRG_412p1 |
Missense Variant Predictions | ||||
---|---|---|---|---|
SIFT | Grantham | Polyphen-DIV | Polyphen-VAR | Summary 0% of algorithms have predicted that this variant will adversely affect protein function |
tolerated | 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.