ABCC9 : c.1164+11A>G

ABCC9 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1164+11A>Gsubstitutionsplice site chr12:22063749 (reverse strand)0.99692533

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.99692533 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

DCM

LMM:   Detected in 0 / 590 DCM patients.

For more information on the clinical significance of this variant, please see the ClinVar entry.

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.99983511
66699 / 66710		0.96838859
10048 / 10376		1.00000000
8654 / 8654		1.00000000
16508 / 16508		0.99740125
11514 / 11544		0.99984881
6613 / 6614		0.99669604
905 / 908		0.99692533
120941 / 121314
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 1.00000
808 / 808		 0.96974
1282 / 1322		 1.00000
1008 / 1008		 1.00000
978 / 978		 0.99712
692 / 694		 1.00000
198 / 198		 0.99161
4966 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

1.00000
182 / 182
British
0.99180
121 / 122
African-American
1.00000
186 / 186
Chinese Dai
1.00000
172 / 172
Bengali
1.00000
188 / 188
Colombian
1.00000
214 / 214
Iberian
0.96875
186 / 192
African-Caribbean
1.00000
206 / 206
Han, Beijing
1.00000
206 / 206
Gujarati Indian
1.00000
128 / 128
Mexican, LA
1.00000
214 / 214
Toscani
0.97980
194 / 198
Esan, Nigeria
1.00000
208 / 208
Japanese
1.00000
204 / 204
Indian Telugu
1.00000
170 / 170
Peruvian
1.00000
198 / 198
Utah Europeans
0.94690
214 / 226
Gambian
1.00000
198 / 198
Kinh, Vietnam
1.00000
192 / 192
Punjabi, Lahore
0.99038
206 / 208
Puerto Rican
0.97475
193 / 198
Luhya, Kenya
1.00000
210 / 210
Southern Han
1.00000
204 / 204
Tamil
0.95882
163 / 170
Mende
0.97685
211 / 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 ENST00000261201 LRG_377t2NM_005691.2
Protein ENSP00000261201 LRG_377p2O60706



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.