RYR1 : c.4161-6T>C

RYR1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.4161-6T>Csubstitutionsplice site chr19:38965952 (forward strand)0.24271450

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.24271450 (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
ExAC0.19925080
3351 / 16818		0.46477370
2177 / 4684		0.08251748
118 / 1430		0.23386393
2145 / 9172		0.27107558
373 / 1376		0.18898810
127 / 672		0.23666667
71 / 300		0.24271450
8362 / 34452
ESP 0.11306
971 / 8588		 0.39489
1732 / 4386		 0.20834
2703 / 12974
1KG
 0.12005
97 / 808		 0.48487
641 / 1322		 0.04067
41 / 1008		 0.21984
215 / 978		 0.11527
80 / 694		 0.06566
13 / 198		 0.21705
1087 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.13736
25 / 182
British
0.45902
56 / 122
African-American
0.04301
8 / 186
Chinese Dai
0.21512
37 / 172
Bengali
0.15957
30 / 188
Colombian
0.07944
17 / 214
Iberian
0.41146
79 / 192
African-Caribbean
0.03883
8 / 206
Han, Beijing
0.21845
45 / 206
Gujarati Indian
0.06250
8 / 128
Mexican, LA
0.14486
31 / 214
Toscani
0.48485
96 / 198
Esan, Nigeria
0.04327
9 / 208
Japanese
0.20588
42 / 204
Indian Telugu
0.04118
7 / 170
Peruvian
0.12121
24 / 198
Utah Europeans
0.49115
111 / 226
Gambian
0.02525
5 / 198
Kinh, Vietnam
0.25521
49 / 192
Punjabi, Lahore
0.16827
35 / 208
Puerto Rican
0.52525
104 / 198
Luhya, Kenya
0.05238
11 / 210
Southern Han
0.20588
42 / 204
Tamil
0.59412
101 / 170
Mende
0.43519
94 / 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.