RYR2 : c.677-11T>A

RYR2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.677-11T>Asubstitutionsplice site chr1:237551376 (forward strand)0.57513908

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.57513908 (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
ExAC0.57164367
37206 / 65086		0.46531303
4400 / 9456		0.64463103
5451 / 8456		0.47808867
7484 / 15654		0.78547177
8791 / 11192		0.55185185
3576 / 6480		0.56880734
496 / 872		0.57513908
67404 / 117196
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.57921
468 / 808		 0.46974
621 / 1322		 0.64583
651 / 1008		 0.43456
425 / 978		 0.74207
515 / 694		 0.54040
107 / 198		 0.55651
2787 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.60440
110 / 182
British
0.40984
50 / 122
African-American
0.62903
117 / 186
Chinese Dai
0.46512
80 / 172
Bengali
0.68085
128 / 188
Colombian
0.57477
123 / 214
Iberian
0.49479
95 / 192
African-Caribbean
0.63107
130 / 206
Han, Beijing
0.40777
84 / 206
Gujarati Indian
0.75000
96 / 128
Mexican, LA
0.56075
120 / 214
Toscani
0.42424
84 / 198
Esan, Nigeria
0.66346
138 / 208
Japanese
0.39216
80 / 204
Indian Telugu
0.89412
152 / 170
Peruvian
0.58081
115 / 198
Utah Europeans
0.55310
125 / 226
Gambian
0.63131
125 / 198
Kinh, Vietnam
0.50521
97 / 192
Punjabi, Lahore
0.66827
139 / 208
Puerto Rican
0.45960
91 / 198
Luhya, Kenya
0.67143
141 / 210
Southern Han
0.41176
84 / 204
Tamil
0.46471
79 / 170
Mende
0.44907
97 / 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.