ABCC8 : c.2117-3C>T

ABCC8 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2117-3C>Tsubstitutionsplice site chr11:17448704 (reverse strand)0.43459406

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.43459406 (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
ExAC0.44553103
29021 / 65138		0.16990095
1681 / 9894		0.59964871
5121 / 8540		0.33082895
5284 / 15972		0.62633795
7139 / 11398		0.43106646
2789 / 6470		0.42500000
374 / 880		0.43459406
51409 / 118292
ESP 0.44293
3803 / 8586		 0.17932
789 / 4400		 0.35361
4592 / 12986
1KG
 0.41213
333 / 808		 0.13843
183 / 1322		 0.55060
555 / 1008		 0.31902
312 / 978		 0.53602
372 / 694		 0.45455
90 / 198		 0.36841
1845 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.40659
74 / 182
British
0.22951
28 / 122
African-American
0.58602
109 / 186
Chinese Dai
0.30233
52 / 172
Bengali
0.48404
91 / 188
Colombian
0.38785
83 / 214
Iberian
0.15104
29 / 192
African-Caribbean
0.55340
114 / 206
Han, Beijing
0.37379
77 / 206
Gujarati Indian
0.57812
74 / 128
Mexican, LA
0.40187
86 / 214
Toscani
0.09091
18 / 198
Esan, Nigeria
0.55769
116 / 208
Japanese
0.23039
47 / 204
Indian Telugu
0.68824
117 / 170
Peruvian
0.45455
90 / 198
Utah Europeans
0.12832
29 / 226
Gambian
0.47475
94 / 198
Kinh, Vietnam
0.34375
66 / 192
Punjabi, Lahore
0.43269
90 / 208
Puerto Rican
0.16667
33 / 198
Luhya, Kenya
0.58095
122 / 210
Southern Han
0.34314
70 / 204
Tamil
0.11765
20 / 170
Mende
0.12037
26 / 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 ENST00000389817 NM_000352.3
Protein ENSP00000374467 Q09428



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.