Variant (CDS) | Variant (protein) | Variant Type | Variant Effect | Genomic Location (GRCh37) | ExAC Frequency |
c.13142A>G | p.H4381R (His > Arg) | substitution | missense | chr1:228503677 (forward strand) | 0.70139015 |
As this variant is present at a population frequency of 0.70139015 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.
Database | European | African | East Asian | South Asian | American | Finnish | Other | Total |
---|---|---|---|---|---|---|---|---|
ExAC | 0.71105677 35769 / 50304 | 0.83240826 5399 / 6486 | 0.73354373 4881 / 6654 | 0.51806555 6481 / 12510 | 0.75877937 6266 / 8258 | 0.78881418 2581 / 3272 | 0.67198582 379 / 564 | 0.70139015 61756 / 88048 |
ESP | 0.70555 5897 / 8358 |
0.83826 3514 / 4192 |
0.74988 9411 / 12550 |
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1KG |
0.64975 525 / 808 |
0.87216 1153 / 1322 |
0.74802 754 / 1008 |
0.43865 429 / 978 |
0.71470 496 / 694 |
0.77273 153 / 198 |
0.70088 3510 / 5008 |
0.69231 126 / 182 British |
0.83607 102 / 122 African-American |
0.76344 142 / 186 Chinese Dai |
0.44186 76 / 172 Bengali |
0.61170 115 / 188 Colombian |
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0.65421 140 / 214 Iberian |
0.82812 159 / 192 African-Caribbean |
0.66990 138 / 206 Han, Beijing |
0.43204 89 / 206 Gujarati Indian |
0.72656 93 / 128 Mexican, LA |
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0.62617 134 / 214 Toscani |
0.88889 176 / 198 Esan, Nigeria |
0.79808 166 / 208 Japanese |
0.38725 79 / 204 Indian Telugu |
0.74706 127 / 170 Peruvian |
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0.63131 125 / 198 Utah Europeans |
0.90265 204 / 226 Gambian |
0.76768 152 / 198 Kinh, Vietnam |
0.50000 96 / 192 Punjabi, Lahore |
0.77404 161 / 208 Puerto Rican |
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0.86364 171 / 198 Luhya, Kenya |
0.74286 156 / 210 Southern Han |
0.43627 89 / 204 Tamil |
||||||
0.91765 156 / 170 Mende |
||||||||
0.85648 185 / 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 | |
neutral | 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.