DPP6 : c.1941+10C>T

DPP6 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1941+10C>Tsubstitutionsplice site chr7:154672662 (forward strand)0.13354625

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.13354625 (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
ExAC0.11631851
7751 / 66636		0.02537192
249 / 9814		0.44597112
3830 / 8588		0.14836904
2438 / 16432		0.10693292
1237 / 11568		0.07199032
476 / 6612		0.13111111
118 / 900		0.13354625
16099 / 120550
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.10767
87 / 808		 0.01059
14 / 1322		 0.46230
466 / 1008		 0.15746
154 / 978		 0.09366
65 / 694		 0.07071
14 / 198		 0.15974
800 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.09341
17 / 182
British
0.01639
2 / 122
African-American
0.54839
102 / 186
Chinese Dai
0.16279
28 / 172
Bengali
0.14362
27 / 188
Colombian
0.13084
28 / 214
Iberian
0.02083
4 / 192
African-Caribbean
0.43689
90 / 206
Han, Beijing
0.15534
32 / 206
Gujarati Indian
0.08594
11 / 128
Mexican, LA
0.14486
31 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.33654
70 / 208
Japanese
0.13725
28 / 204
Indian Telugu
0.07059
12 / 170
Peruvian
0.05556
11 / 198
Utah Europeans
0.00442
1 / 226
Gambian
0.55556
110 / 198
Kinh, Vietnam
0.16146
31 / 192
Punjabi, Lahore
0.07212
15 / 208
Puerto Rican
0.03030
6 / 198
Luhya, Kenya
0.44762
94 / 210
Southern Han
0.17157
35 / 204
Tamil
0.00588
1 / 170
Mende
0.00000
0 / 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.