ACE : c.3692-6G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.3692-6G>A		substitution	splice site	chr17:61574492 (forward strand)	0.55618045

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.55618045 (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
ExAC	0.50138212 27570 / 54988	0.61721375 4776 / 7738	0.63027696 4688 / 7438	0.63827111 9643 / 15108	0.64356030 6276 / 9752	0.53725579 2365 / 4402	0.52794118 359 / 680	0.55618045 55677 / 100106
ESP	0.45589 3876 / 8502	0.56167 2450 / 4362						0.49176 6326 / 12864
1KG	0.44307 358 / 808	0.62027 820 / 1322	0.60714 612 / 1008	0.65031 636 / 978	0.58213 404 / 694	0.42424 84 / 198		0.58187 2914 / 5008

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

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

0.51099 93 / 182 British	0.64754 79 / 122 African-American	0.55914 104 / 186 Chinese Dai	0.65698 113 / 172 Bengali	0.55319 104 / 188 Colombian
0.45794 98 / 214 Iberian	0.57812 111 / 192 African-Caribbean	0.70874 146 / 206 Han, Beijing	0.61650 127 / 206 Gujarati Indian	0.60938 78 / 128 Mexican, LA
0.35047 75 / 214 Toscani	0.54545 108 / 198 Esan, Nigeria	0.52404 109 / 208 Japanese	0.68137 139 / 204 Indian Telugu	0.69412 118 / 170 Peruvian
0.46465 92 / 198 Utah Europeans	0.70796 160 / 226 Gambian	0.58081 115 / 198 Kinh, Vietnam	0.65104 125 / 192 Punjabi, Lahore	0.50000 104 / 208 Puerto Rican
	0.63636 126 / 198 Luhya, Kenya	0.65714 138 / 210 Southern Han	0.64706 132 / 204 Tamil
	0.64118 109 / 170 Mende
	0.58796 127 / 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	ENST00000290866		NM_000789.3
Protein	ENSP00000290866			P12821

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.