RYR2 : c.13783-6A>G

RYR2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.13783-6A>Gsubstitutionsplice site chr1:237957161 (forward strand)0.73988781

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.73988781 (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
ExAC0.68731979
43385 / 63122		0.59589331
5630 / 9448		0.94413543
7808 / 8270		0.86580653
13891 / 16044		0.84356778
9259 / 10976		0.71583851
4610 / 6440		0.72377622
621 / 858		0.73988781
85204 / 115158
ESP 0.67850
5523 / 8140		 0.59025
2132 / 3612		 0.65138
7655 / 11752
1KG
 0.63738
515 / 808		 0.56884
752 / 1322		 0.94940
957 / 1008		 0.89264
873 / 978		 0.80403
558 / 694		 0.70202
139 / 198		 0.75759
3794 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.70330
128 / 182
British
0.68033
83 / 122
African-American
0.94086
175 / 186
Chinese Dai
0.90116
155 / 172
Bengali
0.75532
142 / 188
Colombian
0.63551
136 / 214
Iberian
0.53125
102 / 192
African-Caribbean
0.96117
198 / 206
Han, Beijing
0.88350
182 / 206
Gujarati Indian
0.85938
110 / 128
Mexican, LA
0.59346
127 / 214
Toscani
0.58586
116 / 198
Esan, Nigeria
0.95673
199 / 208
Japanese
0.90686
185 / 204
Indian Telugu
0.94118
160 / 170
Peruvian
0.62626
124 / 198
Utah Europeans
0.53982
122 / 226
Gambian
0.93939
186 / 198
Kinh, Vietnam
0.86979
167 / 192
Punjabi, Lahore
0.70192
146 / 208
Puerto Rican
0.62121
123 / 198
Luhya, Kenya
0.94762
199 / 210
Southern Han
0.90196
184 / 204
Tamil
0.54706
93 / 170
Mende
0.52315
113 / 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.