RYR1 : c.8693-10G>C

RYR1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.8693-10G>Csubstitutionsplice site chr19:38997459 (forward strand)0.32427053

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.32427053 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.25957318
17150 / 66070		0.43980031
4493 / 10216		0.34248656
2931 / 8558		0.45552184
7507 / 16480		0.40577057
4655 / 11472		0.30065666
1923 / 6396		0.31473214
282 / 896		0.32427053
38941 / 120088
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.29703
240 / 808		 0.48563
642 / 1322		 0.35317
356 / 1008		 0.49284
482 / 978		 0.36599
254 / 694		 0.30303
60 / 198		 0.40615
2034 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.31868
58 / 182
British
0.44262
54 / 122
African-American
0.40323
75 / 186
Chinese Dai
0.40116
69 / 172
Bengali
0.39894
75 / 188
Colombian
0.28972
62 / 214
Iberian
0.48438
93 / 192
African-Caribbean
0.30583
63 / 206
Han, Beijing
0.51456
106 / 206
Gujarati Indian
0.33594
43 / 128
Mexican, LA
0.33178
71 / 214
Toscani
0.49495
98 / 198
Esan, Nigeria
0.27404
57 / 208
Japanese
0.48529
99 / 204
Indian Telugu
0.31765
54 / 170
Peruvian
0.24747
49 / 198
Utah Europeans
0.52212
118 / 226
Gambian
0.39394
78 / 198
Kinh, Vietnam
0.52604
101 / 192
Punjabi, Lahore
0.39423
82 / 208
Puerto Rican
0.50505
100 / 198
Luhya, Kenya
0.39524
83 / 210
Southern Han
0.52451
107 / 204
Tamil
0.51176
87 / 170
Mende
0.42593
92 / 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 ENST00000359596 NM_000540.2
Protein ENSP00000352608 P21817



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.