ATP2A2 : c.1420-8C>G

ATP2A2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1420-8C>Gsubstitutionsplice site chr12:110777078 (forward strand)0.00762208

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.00762208 (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
ExAC0.00046454
31 / 66732		0.07626302
791 / 10372		0.00000000
0 / 8652		0.00302883
50 / 16508		0.00423363
49 / 11574		0.00000000
0 / 6614		0.00441501
4 / 906		0.00762208
925 / 121358
ESP 0.00047
4 / 8600		 0.08625
380 / 4406		 0.02952
384 / 13006
1KG
 0.00248
2 / 808		 0.08245
109 / 1322		 0.00000
0 / 1008		 0.00307
3 / 978		 0.00865
6 / 694		 0.00000
0 / 198		 0.02396
120 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00000
0 / 182
British
0.05738
7 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.00581
1 / 172
Bengali
0.00532
1 / 188
Colombian
0.00935
2 / 214
Iberian
0.06771
13 / 192
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.00000
0 / 206
Gujarati Indian
0.01562
2 / 128
Mexican, LA
0.00000
0 / 214
Toscani
0.11111
22 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.00000
0 / 204
Indian Telugu
0.01176
2 / 170
Peruvian
0.00000
0 / 198
Utah Europeans
0.09735
22 / 226
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.00521
1 / 192
Punjabi, Lahore
0.00481
1 / 208
Puerto Rican
0.07071
14 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.00490
1 / 204
Tamil
0.06471
11 / 170
Mende
0.09259
20 / 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 ENST00000308664 NM_001681.3
Protein ENSP00000311186



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.