Variant (CDS) | Variant (protein) | Variant Type | Variant Effect | Genomic Location (GRCh37) | ExAC Frequency |
c.13601G>A | p.R4534H (Arg > His) | substitution | missense | chr1:228505204 (forward strand) | 0.26191414 |
As this variant is present at a population frequency of 0.26191414 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.
Database | European | African | East Asian | South Asian | American | Finnish | Other | Total |
---|---|---|---|---|---|---|---|---|
ExAC | 0.20953636 13513 / 64490 | 0.40798274 3782 / 9270 | 0.52445333 4461 / 8506 | 0.16982292 2762 / 16264 | 0.40130534 4550 / 11338 | 0.21771278 1325 / 6086 | 0.23452381 197 / 840 | 0.26191414 30590 / 116794 |
ESP | 0.19438 1632 / 8396 |
0.37658 1547 / 4108 |
0.25424 3179 / 12504 |
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1KG |
0.18069 146 / 808 |
0.39410 521 / 1322 |
0.49901 503 / 1008 |
0.16564 162 / 978 |
0.29539 205 / 694 |
0.21212 42 / 198 |
0.31530 1579 / 5008 |
0.19780 36 / 182 British |
0.36885 45 / 122 African-American |
0.47312 88 / 186 Chinese Dai |
0.22674 39 / 172 Bengali |
0.29787 56 / 188 Colombian |
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0.17290 37 / 214 Iberian |
0.40625 78 / 192 African-Caribbean |
0.49515 102 / 206 Han, Beijing |
0.12136 25 / 206 Gujarati Indian |
0.35156 45 / 128 Mexican, LA |
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0.17290 37 / 214 Toscani |
0.39394 78 / 198 Esan, Nigeria |
0.47596 99 / 208 Japanese |
0.14216 29 / 204 Indian Telugu |
0.29412 50 / 170 Peruvian |
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0.18182 36 / 198 Utah Europeans |
0.42035 95 / 226 Gambian |
0.52020 103 / 198 Kinh, Vietnam |
0.21354 41 / 192 Punjabi, Lahore |
0.25962 54 / 208 Puerto Rican |
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0.39899 79 / 198 Luhya, Kenya |
0.52857 111 / 210 Southern Han |
0.13725 28 / 204 Tamil |
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0.41176 70 / 170 Mende |
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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 | 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 | |||
LRT | MutationTaster | MutationAssessor | FATHMM | |
neutral | polymorphism (auto) | low 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.