RYR2 : c.11963-11T>C

RYR2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.11963-11T>Csubstitutionsplice site chr1:237946964 (forward strand)0.48585501

Effect in Cardiac Disease

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.

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
ExAC0.45407984
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
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
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

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
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
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
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
0.31818
63 / 198
Luhya, Kenya
0.70000
147 / 210
Southern Han
0.40686
83 / 204
Tamil
0.20588
35 / 170
Mende
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).


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.