PPP1R17 : c.34C>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.34C>G	p.L12V (Leu > Val)	substitution	missense	chr7:31732089 (forward strand)	0.12303052

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.12303052 (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	0.10702722 7140 / 66712	0.17855084 1858 / 10406	0.23639731 2042 / 8638	0.08666424 1431 / 16512	0.13328144 1541 / 11562	0.12246749 810 / 6614	0.11894273 108 / 908	0.12303052 14930 / 121352
ESP	0.11186 962 / 8600	0.17181 757 / 4406						0.13217 1719 / 13006
1KG	0.11386 92 / 808	0.20575 272 / 1322	0.23413 236 / 1008	0.09918 97 / 978	0.10951 76 / 694	0.12121 24 / 198		0.15915 797 / 5008

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

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

0.12637 23 / 182 British	0.18852 23 / 122 African-American	0.23656 44 / 186 Chinese Dai	0.12209 21 / 172 Bengali	0.09574 18 / 188 Colombian
0.13084 28 / 214 Iberian	0.19792 38 / 192 African-Caribbean	0.25728 53 / 206 Han, Beijing	0.09223 19 / 206 Gujarati Indian	0.08594 11 / 128 Mexican, LA
0.08879 19 / 214 Toscani	0.23232 46 / 198 Esan, Nigeria	0.25962 54 / 208 Japanese	0.09804 20 / 204 Indian Telugu	0.13529 23 / 170 Peruvian
0.11111 22 / 198 Utah Europeans	0.24779 56 / 226 Gambian	0.21212 42 / 198 Kinh, Vietnam	0.08854 17 / 192 Punjabi, Lahore	0.11538 24 / 208 Puerto Rican
	0.13131 26 / 198 Luhya, Kenya	0.20476 43 / 210 Southern Han	0.09804 20 / 204 Tamil
	0.19412 33 / 170 Mende
	0.23148 50 / 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	ENST00000342032		NM_006658.4
Protein	ENSP00000340125			O96001

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