CTNNA3 : c.2266-10T>G

CTNNA3 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2266-10T>Gsubstitutionsplice site chr10:67726514 (reverse strand)0.34425096

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.34425096 (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
ExAC0.30356656
20036 / 66002		0.31965779
3288 / 10286		0.40552564
3464 / 8542		0.36884441
6007 / 16286		0.50770039
5802 / 11428		0.36948585
2429 / 6574		0.32261641
291 / 902		0.34425096
41317 / 120020
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.25866
209 / 808		 0.30787
407 / 1322		 0.38988
393 / 1008		 0.38446
376 / 978		 0.46686
324 / 694		 0.28788
57 / 198		 0.35264
1766 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.27473
50 / 182
British
0.27869
34 / 122
African-American
0.35484
66 / 186
Chinese Dai
0.35465
61 / 172
Bengali
0.50532
95 / 188
Colombian
0.24766
53 / 214
Iberian
0.39062
75 / 192
African-Caribbean
0.37864
78 / 206
Han, Beijing
0.33981
70 / 206
Gujarati Indian
0.43750
56 / 128
Mexican, LA
0.26168
56 / 214
Toscani
0.34848
69 / 198
Esan, Nigeria
0.40385
84 / 208
Japanese
0.43137
88 / 204
Indian Telugu
0.60000
102 / 170
Peruvian
0.25253
50 / 198
Utah Europeans
0.26106
59 / 226
Gambian
0.36364
72 / 198
Kinh, Vietnam
0.40104
77 / 192
Punjabi, Lahore
0.34135
71 / 208
Puerto Rican
0.27778
55 / 198
Luhya, Kenya
0.44286
93 / 210
Southern Han
0.39216
80 / 204
Tamil
0.27647
47 / 170
Mende
0.31481
68 / 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 ENST00000433211 NM_013266.2
Protein ENSP00000389714 Q9UI47



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.