RBM20 : c.2303G>C

RBM20 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2303G>Cp.W768S (Trp > Ser)substitutionmissense chr10:112572458 (forward strand)0.99678013

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.99678013 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

DCM

LMM:   Detected in 0 / 156 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
ExAC0.99977226
8780 / 8782		0.96973929
2083 / 2148		0.99839228
621 / 622		1.00000000
7912 / 7912		0.99509804
406 / 408		1.00000000
1626 / 1626		1.00000000
242 / 242		0.99678013
21670 / 21740
ESP 0.99937
3180 / 3182		 0.98049
1357 / 1384		 0.99365
4537 / 4566
1KG
 1.00000
808 / 808		 0.98766
1281 / 1297		 1.00000
1008 / 1008		 1.00000
978 / 978		 0.99567
690 / 693		 1.00000
198 / 198		 0.99619
4963 / 4982
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

1.00000
182 / 182
British
1.00000
122 / 122
African-American
1.00000
186 / 186
Chinese Dai
1.00000
172 / 172
Bengali
0.98936
186 / 188
Colombian
1.00000
214 / 214
Iberian
0.99465
186 / 187
African-Caribbean
1.00000
206 / 206
Han, Beijing
1.00000
206 / 206
Gujarati Indian
0.99219
127 / 128
Mexican, LA
1.00000
214 / 214
Toscani
0.99485
193 / 194
Esan, Nigeria
1.00000
208 / 208
Japanese
1.00000
204 / 204
Indian Telugu
1.00000
169 / 169
Peruvian
1.00000
198 / 198
Utah Europeans
0.97345
220 / 226
Gambian
1.00000
198 / 198
Kinh, Vietnam
1.00000
192 / 192
Punjabi, Lahore
1.00000
208 / 208
Puerto Rican
1.00000
192 / 192
Luhya, Kenya
1.00000
210 / 210
Southern Han
1.00000
204 / 204
Tamil
0.95833
161 / 168
Mende
0.99519
207 / 208
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 ENST00000369519 LRG_382t1NM_001134363.1
Protein ENSP00000358532 LRG_382p1Q5T481

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
12.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated radical benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) neutral tolerated


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.