ABCC9 : c.574-5C>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.574-5C>A		substitution	splice site	chr12:22068849 (reverse strand)	0.61380125

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.61380125 (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
ExAC	0.60251534 39284 / 65200	0.59085303 5749 / 9730	0.78637006 6681 / 8496	0.63974625 10488 / 16394	0.53937567 6082 / 11276	0.59429356 3895 / 6554	0.65280899 581 / 890	0.61380125 72760 / 118540
ESP	0.59249 5093 / 8596	0.57905 2549 / 4402						0.58794 7642 / 12998
1KG	0.64728 523 / 808	0.58926 779 / 1322	0.80258 809 / 1008	0.62986 616 / 978	0.54899 381 / 694	0.61111 121 / 198		0.64477 3229 / 5008

View sub-population details for 1000 Genomes (1KG) data

Hide sub-population details for 1000 Genomes (1KG) data

0.61538 112 / 182 British	0.61475 75 / 122 African-American	0.83871 156 / 186 Chinese Dai	0.60465 104 / 172 Bengali	0.58511 110 / 188 Colombian
0.62150 133 / 214 Iberian	0.53646 103 / 192 African-Caribbean	0.79126 163 / 206 Han, Beijing	0.65534 135 / 206 Gujarati Indian	0.45312 58 / 128 Mexican, LA
0.69159 148 / 214 Toscani	0.64646 128 / 198 Esan, Nigeria	0.78846 164 / 208 Japanese	0.62745 128 / 204 Indian Telugu	0.50588 86 / 170 Peruvian
0.65657 130 / 198 Utah Europeans	0.57965 131 / 226 Gambian	0.83838 166 / 198 Kinh, Vietnam	0.65104 125 / 192 Punjabi, Lahore	0.61058 127 / 208 Puerto Rican
	0.65152 129 / 198 Luhya, Kenya	0.76190 160 / 210 Southern Han	0.60784 124 / 204 Tamil
	0.58235 99 / 170 Mende
	0.52778 114 / 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_377t2	NM_005691.2
Protein	ENSP00000261201	LRG_377p2		O60706

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.