ACTN1 : c.427+10T>C

ACTN1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.427+10T>Csubstitutionsplice site chr14:69378863 (reverse strand)0.20600989

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.20600989 (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
ExAC0.11210594
7475 / 66678		0.22121853
2302 / 10406		0.62650602
5408 / 8632		0.37701637
6217 / 16490		0.20926214
2422 / 11574		0.14892652
985 / 6614		0.19867550
180 / 906		0.20600989
24989 / 121300
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.09406
76 / 808		 0.22995
304 / 1322		 0.61607
621 / 1008		 0.45194
442 / 978		 0.17723
123 / 694		 0.16162
32 / 198		 0.31909
1598 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.11538
21 / 182
British
0.24590
30 / 122
African-American
0.61290
114 / 186
Chinese Dai
0.44186
76 / 172
Bengali
0.19149
36 / 188
Colombian
0.10280
22 / 214
Iberian
0.26042
50 / 192
African-Caribbean
0.60680
125 / 206
Han, Beijing
0.47573
98 / 206
Gujarati Indian
0.18750
24 / 128
Mexican, LA
0.07009
15 / 214
Toscani
0.21212
42 / 198
Esan, Nigeria
0.62500
130 / 208
Japanese
0.49510
101 / 204
Indian Telugu
0.15294
26 / 170
Peruvian
0.09091
18 / 198
Utah Europeans
0.19469
44 / 226
Gambian
0.57576
114 / 198
Kinh, Vietnam
0.34896
67 / 192
Punjabi, Lahore
0.17788
37 / 208
Puerto Rican
0.27273
54 / 198
Luhya, Kenya
0.65714
138 / 210
Southern Han
0.49020
100 / 204
Tamil
0.23529
40 / 170
Mende
0.20370
44 / 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.