Variant (CDS) | Variant (protein) | Variant Type | Variant Effect | Genomic Location (GRCh37) | ExAC Frequency |
c.136-5A>G | substitution | splice site | chr7:87846511 (reverse strand) | 0.01787775 |
As this variant is present at a population frequency of 0.01787775 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.
Database | European | African | East Asian | South Asian | American | Finnish | Other | Total |
---|---|---|---|---|---|---|---|---|
ExAC | 0.00617673 412 / 66702 | 0.05618736 583 / 10376 | 0.00970874 84 / 8652 | 0.05913718 976 / 16504 | 0.00847165 98 / 11568 | 0.00045358 3 / 6614 | 0.01431718 13 / 908 | 0.01787775 2169 / 121324 |
ESP | 0.00686 59 / 8600 |
0.05152 227 / 4406 |
0.02199 286 / 13006 |
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1KG |
0.00495 4 / 808 |
0.06884 91 / 1322 |
0.01290 13 / 1008 |
0.06851 67 / 978 |
0.01441 10 / 694 |
0.00000 0 / 198 |
0.03694 185 / 5008 |
0.00000 0 / 182 British |
0.07377 9 / 122 African-American |
0.00000 0 / 186 Chinese Dai |
0.05814 10 / 172 Bengali |
0.00000 0 / 188 Colombian |
||||
0.00467 1 / 214 Iberian |
0.06250 12 / 192 African-Caribbean |
0.03883 8 / 206 Han, Beijing |
0.06311 13 / 206 Gujarati Indian |
0.02344 3 / 128 Mexican, LA |
||||
0.00935 2 / 214 Toscani |
0.06566 13 / 198 Esan, Nigeria |
0.00481 1 / 208 Japanese |
0.07843 16 / 204 Indian Telugu |
0.00000 0 / 170 Peruvian |
||||
0.00505 1 / 198 Utah Europeans |
0.05310 12 / 226 Gambian |
0.01515 3 / 198 Kinh, Vietnam |
0.06771 13 / 192 Punjabi, Lahore |
0.03365 7 / 208 Puerto Rican |
||||
0.07576 15 / 198 Luhya, Kenya |
0.00476 1 / 210 Southern Han |
0.07353 15 / 204 Tamil |
||||||
0.07647 13 / 170 Mende |
||||||||
0.07870 17 / 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 | ENST00000265729 | LRG_414t1 | NM_003130.2 | |
Protein | ENSP00000265729 | LRG_414p1 | P30626 |
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.