Variant (CDS) | Variant (protein) | Variant Type | Variant Effect | Genomic Location (GRCh37) | ExAC Frequency |
c.11963-11T>C | substitution | splice site | chr1:237946964 (forward strand) | 0.48585501 |
As this variant is present at a population frequency of 0.48585501 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.
DCM | LMM: Detected in 0 / 121 DCM patients. |
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For more information on the clinical significance of this variant, please see the ClinVar entry.
Database | European | African | East Asian | South Asian | American | Finnish | Other | Total |
---|---|---|---|---|---|---|---|---|
ExAC | 0.45407984 18086 / 39830 | 0.39234303 2562 / 6530 | 0.70672646 4728 / 6690 | 0.53123760 5357 / 10084 | 0.51907401 3184 / 6134 | 0.42753002 1994 / 4664 | 0.50171821 292 / 582 | 0.48585501 36203 / 74514 |
ESP | 0.00000 0 / 8600 |
0.00000 0 / 4400 |
0.00000 0 / 13000 |
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1KG |
0.31312 253 / 808 |
0.28064 371 / 1322 |
0.69643 702 / 1008 |
0.41207 403 / 978 |
0.40202 279 / 694 |
0.34848 69 / 198 |
0.41474 2077 / 5008 |
0.32967 60 / 182 British |
0.30328 37 / 122 African-American |
0.66129 123 / 186 Chinese Dai |
0.40698 70 / 172 Bengali |
0.36170 68 / 188 Colombian |
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0.28972 62 / 214 Iberian |
0.26562 51 / 192 African-Caribbean |
0.64563 133 / 206 Han, Beijing |
0.39806 82 / 206 Gujarati Indian |
0.42969 55 / 128 Mexican, LA |
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0.30374 65 / 214 Toscani |
0.34848 69 / 198 Esan, Nigeria |
0.70192 146 / 208 Japanese |
0.40196 82 / 204 Indian Telugu |
0.52941 90 / 170 Peruvian |
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0.33333 66 / 198 Utah Europeans |
0.23894 54 / 226 Gambian |
0.77273 153 / 198 Kinh, Vietnam |
0.44792 86 / 192 Punjabi, Lahore |
0.31731 66 / 208 Puerto Rican |
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0.31818 63 / 198 Luhya, Kenya |
0.70000 147 / 210 Southern Han |
0.40686 83 / 204 Tamil |
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0.20588 35 / 170 Mende |
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0.28704 62 / 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 | ENST00000366574 | LRG_402t1 | NM_001035.2 | |
Protein | ENSP00000355533 | LRG_402p1 | Q92736 |
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.