RYR2 : c.464-8A>C

RYR2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.464-8A>Csubstitutionsplice site chr1:237540615 (forward strand)0.30214740

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.30214740 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

DCM

LMM:   Detected in 0 / 121 DCM patients.

For more information on the clinical significance of this variant, please see the ClinVar entry.

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.24819747
15766 / 63522		0.51179444
4860 / 9496		0.44701671
3746 / 8380		0.22780311
3397 / 14912		0.37990061
4128 / 10866		0.37577447
2426 / 6456		0.31490385
262 / 832		0.30214740
34585 / 114464
ESP 0.22932
1891 / 8246		 0.46799
1769 / 3780		 0.30434
3660 / 12026
1KG
 0.20668
167 / 808		 0.54841
725 / 1322		 0.43155
435 / 1008		 0.18507
181 / 978		 0.34294
238 / 694		 0.35859
71 / 198		 0.36282
1817 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.15385
28 / 182
British
0.39344
48 / 122
African-American
0.33871
63 / 186
Chinese Dai
0.22674
39 / 172
Bengali
0.31383
59 / 188
Colombian
0.21495
46 / 214
Iberian
0.58333
112 / 192
African-Caribbean
0.47087
97 / 206
Han, Beijing
0.16505
34 / 206
Gujarati Indian
0.30469
39 / 128
Mexican, LA
0.25701
55 / 214
Toscani
0.53030
105 / 198
Esan, Nigeria
0.52885
110 / 208
Japanese
0.16176
33 / 204
Indian Telugu
0.35294
60 / 170
Peruvian
0.19192
38 / 198
Utah Europeans
0.58407
132 / 226
Gambian
0.39394
78 / 198
Kinh, Vietnam
0.21875
42 / 192
Punjabi, Lahore
0.38462
80 / 208
Puerto Rican
0.57576
114 / 198
Luhya, Kenya
0.41429
87 / 210
Southern Han
0.16176
33 / 204
Tamil
0.58235
99 / 170
Mende
0.53241
115 / 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).


Other Variant & Gene Details

Canonical Sequences
Transcript ENST00000366574 LRG_402t1NM_001035.2
Protein ENSP00000355533 LRG_402p1Q92736



References

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.