DPP6 : c.2369T>C

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.2369T>C	p.L790P (Leu > Pro)	substitution	missense	chr7:154684153 (forward strand)	0.32084879

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.32084879 (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	0.28145606 18781 / 66728	0.51579376 5062 / 9814	0.29397394 2527 / 8596	0.24588178 4060 / 16512	0.54294850 6283 / 11572	0.26247354 1736 / 6614	0.32111111 289 / 900	0.32084879 38738 / 120736
ESP	0.27418 2325 / 8480	0.49625 2119 / 4270						0.34855 4444 / 12750
1KG	0.26980 218 / 808	0.52345 692 / 1322	0.27381 276 / 1008	0.23415 229 / 978	0.46110 320 / 694	0.24242 48 / 198		0.35603 1783 / 5008

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

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

0.23077 42 / 182 British	0.46721 57 / 122 African-American	0.27957 52 / 186 Chinese Dai	0.19186 33 / 172 Bengali	0.37766 71 / 188 Colombian
0.33178 71 / 214 Iberian	0.61979 119 / 192 African-Caribbean	0.24757 51 / 206 Han, Beijing	0.22330 46 / 206 Gujarati Indian	0.45312 58 / 128 Mexican, LA
0.31776 68 / 214 Toscani	0.50505 100 / 198 Esan, Nigeria	0.26442 55 / 208 Japanese	0.24020 49 / 204 Indian Telugu	0.61765 105 / 170 Peruvian
0.18687 37 / 198 Utah Europeans	0.51327 116 / 226 Gambian	0.31313 62 / 198 Kinh, Vietnam	0.28646 55 / 192 Punjabi, Lahore	0.41346 86 / 208 Puerto Rican
	0.48485 96 / 198 Luhya, Kenya	0.26667 56 / 210 Southern Han	0.22549 46 / 204 Tamil
	0.55294 94 / 170 Mende
	0.50926 110 / 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

Missense Variant Predictions
SIFT	Grantham	Polyphen-DIV	Polyphen-VAR	Summary 0% of algorithms have predicted that this variant will adversely affect protein function
tolerated	moderately conservative	benign	benign
LRT	MutationTaster	MutationAssessor	FATHMM
neutral	polymorphism (auto)	neutral	tolerated

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.