DPP6 : c.2112+3G>A

DPP6 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2112+3G>Asubstitutionsplice site chr7:154679447 (forward strand)0.97036522

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.97036522 (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
ExAC0.96481870
64392 / 66740		0.99278015
9763 / 9834		0.99976814
8624 / 8626		0.97807655
16150 / 16512		0.96259502
11143 / 11576		0.94919867
6278 / 6614		0.96895787
874 / 902		0.97036522
117224 / 120804
ESP 0.96311
8171 / 8484		 0.99389
4226 / 4252		 0.97338
12397 / 12736
1KG
 0.97525
788 / 808		 0.99924
1321 / 1322		 1.00000
1008 / 1008		 0.98773
966 / 978		 0.97118
674 / 694		 0.95960
190 / 198		 0.98782
4947 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.97802
178 / 182
British
1.00000
122 / 122
African-American
1.00000
186 / 186
Chinese Dai
0.99419
171 / 172
Bengali
1.00000
188 / 188
Colombian
0.98131
210 / 214
Iberian
0.99479
191 / 192
African-Caribbean
1.00000
206 / 206
Han, Beijing
0.98058
202 / 206
Gujarati Indian
0.95312
122 / 128
Mexican, LA
0.99065
212 / 214
Toscani
1.00000
198 / 198
Esan, Nigeria
1.00000
208 / 208
Japanese
0.98529
201 / 204
Indian Telugu
0.94118
160 / 170
Peruvian
0.94949
188 / 198
Utah Europeans
1.00000
226 / 226
Gambian
1.00000
198 / 198
Kinh, Vietnam
0.98438
189 / 192
Punjabi, Lahore
0.98077
204 / 208
Puerto Rican
1.00000
198 / 198
Luhya, Kenya
1.00000
210 / 210
Southern Han
0.99510
203 / 204
Tamil
1.00000
170 / 170
Mende
1.00000
216 / 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 ENST00000404039 NM_001936.3
Protein ENSP00000385578 E9PF59



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.