ACTN2 : c.877-8C>G

ACTN2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.877-8C>Gsubstitutionsplice site chr1:236902594 (forward strand)0.77525885

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.77525885 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

HCM

OMGL: Detected in 0 / 807 HCM patients.

LMM:   Detected in 0 / 632 HCM patients.

DCM

OMGL: Detected in 0 / 305 DCM patients.

LMM:   Detected in 0 / 590 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
ExAC0.77487484
51695 / 66714		0.78375242
8104 / 10340		0.79944483
6912 / 8646		0.76535433
12636 / 16510		0.74624158
8637 / 11574		0.80762250
5340 / 6612		0.79074890
718 / 908		0.77525885
94042 / 121304
ESP 0.77628
6676 / 8600		 0.77985
3436 / 4406		 0.77749
10112 / 13006
1KG
 0.76980
622 / 808		 0.76399
1010 / 1322		 0.78373
790 / 1008		 0.73517
719 / 978		 0.78530
545 / 694		 0.79798
158 / 198		 0.76757
3844 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.76374
139 / 182
British
0.72951
89 / 122
African-American
0.83871
156 / 186
Chinese Dai
0.74419
128 / 172
Bengali
0.77128
145 / 188
Colombian
0.75234
161 / 214
Iberian
0.76042
146 / 192
African-Caribbean
0.76699
158 / 206
Han, Beijing
0.70388
145 / 206
Gujarati Indian
0.75781
97 / 128
Mexican, LA
0.80374
172 / 214
Toscani
0.78788
156 / 198
Esan, Nigeria
0.73558
153 / 208
Japanese
0.75980
155 / 204
Indian Telugu
0.84118
143 / 170
Peruvian
0.75758
150 / 198
Utah Europeans
0.77876
176 / 226
Gambian
0.81818
162 / 198
Kinh, Vietnam
0.72917
140 / 192
Punjabi, Lahore
0.76923
160 / 208
Puerto Rican
0.73232
145 / 198
Luhya, Kenya
0.76667
161 / 210
Southern Han
0.74020
151 / 204
Tamil
0.77647
132 / 170
Mende
0.76852
166 / 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 ENST00000366578 LRG_436t1NM_001103.2
Protein ENSP00000355537 LRG_436p1P35609



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.