CACNA2D1 : c.178-12dupT

CACNA2D1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.178-12dupTinsertionsplice site chr7:0 (reverse strand)0.20891829

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.20891829 (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
ExAC0.21348259
12873 / 60300		0.05972810
536 / 8974		0.09230564
691 / 7486		0.29633127
4394 / 14828		0.31038763
3251 / 10474		0.14613410
911 / 6234		0.17149758
142 / 828		0.20891829
22798 / 109124
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.19802
160 / 808		 0.03858
51 / 1322		 0.10020
101 / 1008		 0.30573
299 / 978		 0.23631
164 / 694		 0.19697
39 / 198		 0.16254
814 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.19780
36 / 182
British
0.04098
5 / 122
African-American
0.11828
22 / 186
Chinese Dai
0.36047
62 / 172
Bengali
0.28191
53 / 188
Colombian
0.16822
36 / 214
Iberian
0.05208
10 / 192
African-Caribbean
0.10680
22 / 206
Han, Beijing
0.33495
69 / 206
Gujarati Indian
0.25000
32 / 128
Mexican, LA
0.23364
50 / 214
Toscani
0.06061
12 / 198
Esan, Nigeria
0.08654
18 / 208
Japanese
0.30392
62 / 204
Indian Telugu
0.24118
41 / 170
Peruvian
0.19192
38 / 198
Utah Europeans
0.04425
10 / 226
Gambian
0.10606
21 / 198
Kinh, Vietnam
0.25521
49 / 192
Punjabi, Lahore
0.18269
38 / 208
Puerto Rican
0.02525
5 / 198
Luhya, Kenya
0.08571
18 / 210
Southern Han
0.27941
57 / 204
Tamil
0.02941
5 / 170
Mende
0.01852
4 / 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 ENST00000356860 LRG_437t1NM_000722.2
Protein ENSP00000349320 LRG_437p1



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.