PDIA2 : c.1504C>T

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1504C>T	p.P502S (Pro > Ser)	substitution	missense	chr16:336916 (forward strand)	0.15560108

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.15560108 (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	0.16524688 8380 / 50712	0.07739628 541 / 6990	0.13632246 903 / 6624	0.21225014 3143 / 14808	0.08271548 714 / 8632	0.14672544 699 / 4764	0.18091168 127 / 702	0.15560108 14507 / 93232
ESP	0.15830 1286 / 8124	0.06919 252 / 3642						0.13072 1538 / 11766
1KG	0.16708 135 / 808	0.05522 73 / 1322	0.09921 100 / 1008	0.22597 221 / 978	0.09078 63 / 694	0.11616 23 / 198		0.12280 615 / 5008

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

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

0.12637 23 / 182 British	0.09016 11 / 122 African-American	0.09140 17 / 186 Chinese Dai	0.19767 34 / 172 Bengali	0.07447 14 / 188 Colombian
0.19626 42 / 214 Iberian	0.07812 15 / 192 African-Caribbean	0.14078 29 / 206 Han, Beijing	0.21845 45 / 206 Gujarati Indian	0.08594 11 / 128 Mexican, LA
0.17757 38 / 214 Toscani	0.04545 9 / 198 Esan, Nigeria	0.06731 14 / 208 Japanese	0.21078 43 / 204 Indian Telugu	0.06471 11 / 170 Peruvian
0.16162 32 / 198 Utah Europeans	0.06195 14 / 226 Gambian	0.07576 15 / 198 Kinh, Vietnam	0.21875 42 / 192 Punjabi, Lahore	0.12981 27 / 208 Puerto Rican
	0.06061 12 / 198 Luhya, Kenya	0.11905 25 / 210 Southern Han	0.27941 57 / 204 Tamil
	0.01176 2 / 170 Mende
	0.04630 10 / 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	ENST00000219406		NM_006849.2
Protein	ENSP00000219406			Q13087

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.