CACNA2D1 : c.3160-9dupT

CACNA2D1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.3160-9dupTinsertionsplice site chr7:81579833 (reverse strand)0.09444557

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.09444557 (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
ExAC0.09919584
4194 / 42280		0.07643935
547 / 7156		0.02535059
141 / 5562		0.08152462
924 / 11334		0.17520337
1163 / 6638		0.08150899
417 / 5116		0.07667732
48 / 626		0.09444557
7434 / 78712
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.08045
65 / 808		 0.05446
72 / 1322		 0.01687
17 / 1008		 0.05828
57 / 978		 0.11383
79 / 694		 0.10606
21 / 198		 0.06210
311 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.07143
13 / 182
British
0.04918
6 / 122
African-American
0.00538
1 / 186
Chinese Dai
0.09302
16 / 172
Bengali
0.08511
16 / 188
Colombian
0.07477
16 / 214
Iberian
0.05208
10 / 192
African-Caribbean
0.00485
1 / 206
Han, Beijing
0.05340
11 / 206
Gujarati Indian
0.16406
21 / 128
Mexican, LA
0.09813
21 / 214
Toscani
0.06061
12 / 198
Esan, Nigeria
0.01923
4 / 208
Japanese
0.05392
11 / 204
Indian Telugu
0.12941
22 / 170
Peruvian
0.07576
15 / 198
Utah Europeans
0.07080
16 / 226
Gambian
0.03535
7 / 198
Kinh, Vietnam
0.05729
11 / 192
Punjabi, Lahore
0.09615
20 / 208
Puerto Rican
0.05051
10 / 198
Luhya, Kenya
0.01905
4 / 210
Southern Han
0.03922
8 / 204
Tamil
0.04706
8 / 170
Mende
0.04630
10 / 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.