ACTN1 : c.220+11A>C

ACTN1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.220+11A>Csubstitutionsplice site chr14:69392264 (reverse strand)0.71034431

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.71034431 (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
ExAC0.60637750
40010 / 65982		0.75289240
7809 / 10372		0.98726852
8530 / 8640		0.87337581
13981 / 16008		0.83958659
9667 / 11514		0.70206311
4628 / 6592		0.69111111
622 / 900		0.71034431
85247 / 120008
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.54455
440 / 808		 0.78442
1037 / 1322		 0.98512
993 / 1008		 0.90491
885 / 978		 0.76369
530 / 694		 0.69192
137 / 198		 0.80312
4022 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.65385
119 / 182
British
0.71311
87 / 122
African-American
0.99462
185 / 186
Chinese Dai
0.91860
158 / 172
Bengali
0.73404
138 / 188
Colombian
0.47664
102 / 214
Iberian
0.81771
157 / 192
African-Caribbean
0.97573
201 / 206
Han, Beijing
0.88350
182 / 206
Gujarati Indian
0.82812
106 / 128
Mexican, LA
0.51869
111 / 214
Toscani
0.78283
155 / 198
Esan, Nigeria
0.99038
206 / 208
Japanese
0.90686
185 / 204
Indian Telugu
0.91176
155 / 170
Peruvian
0.54545
108 / 198
Utah Europeans
0.76549
173 / 226
Gambian
0.97475
193 / 198
Kinh, Vietnam
0.86979
167 / 192
Punjabi, Lahore
0.62981
131 / 208
Puerto Rican
0.77778
154 / 198
Luhya, Kenya
0.99048
208 / 210
Southern Han
0.94608
193 / 204
Tamil
0.81765
139 / 170
Mende
0.79630
172 / 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 ENST00000394419 NM_001130004.1
Protein ENSP00000377941 P12814



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.