RYR1 : c.10687-10C>T

RYR1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.10687-10C>Tsubstitutionsplice site chr19:39018277 (forward strand)0.08165575

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.08165575 (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
ExAC0.05331750
3457 / 64838		0.02251893
226 / 10036		0.16619217
1401 / 8430		0.22106309
3560 / 16104		0.06361026
709 / 11146		0.02957516
181 / 6120		0.07359813
63 / 856		0.08165575
9597 / 117530
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.04703
38 / 808		 0.01286
17 / 1322		 0.19246
194 / 1008		 0.22904
224 / 978		 0.07637
53 / 694		 0.03535
7 / 198		 0.10643
533 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.02747
5 / 182
British
0.02459
3 / 122
African-American
0.22043
41 / 186
Chinese Dai
0.22674
39 / 172
Bengali
0.07979
15 / 188
Colombian
0.03271
7 / 214
Iberian
0.02604
5 / 192
African-Caribbean
0.15534
32 / 206
Han, Beijing
0.24272
50 / 206
Gujarati Indian
0.07812
10 / 128
Mexican, LA
0.07477
16 / 214
Toscani
0.00505
1 / 198
Esan, Nigeria
0.14423
30 / 208
Japanese
0.25000
51 / 204
Indian Telugu
0.08824
15 / 170
Peruvian
0.05051
10 / 198
Utah Europeans
0.00885
2 / 226
Gambian
0.25758
51 / 198
Kinh, Vietnam
0.17708
34 / 192
Punjabi, Lahore
0.06250
13 / 208
Puerto Rican
0.02525
5 / 198
Luhya, Kenya
0.19048
40 / 210
Southern Han
0.24510
50 / 204
Tamil
0.00000
0 / 170
Mende
0.00463
1 / 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.