PDIA2 : c.1144C>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1144C>G	p.P382A (Pro > Ala)	substitution	missense	chr16:336377 (forward strand)	0.02722527

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.02722527 (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	0.01945989 1274 / 65468	0.09777639 941 / 9624	0.01800232 155 / 8610	0.03575337 588 / 16446	0.01510154 174 / 11522	0.01272727 84 / 6600	0.03167421 28 / 884	0.02722527 3244 / 119154
ESP	0.01813 149 / 8220	0.08183 309 / 3776						0.03818 458 / 11996
1KG	0.02970 24 / 808	0.12254 162 / 1322	0.02183 22 / 1008	0.03476 34 / 978	0.03026 21 / 694	0.01515 3 / 198		0.05312 266 / 5008

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

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

0.01099 2 / 182 British	0.07377 9 / 122 African-American	0.01613 3 / 186 Chinese Dai	0.02326 4 / 172 Bengali	0.04255 8 / 188 Colombian
0.03271 7 / 214 Iberian	0.11979 23 / 192 African-Caribbean	0.02913 6 / 206 Han, Beijing	0.02427 5 / 206 Gujarati Indian	0.03125 4 / 128 Mexican, LA
0.04673 10 / 214 Toscani	0.15152 30 / 198 Esan, Nigeria	0.03846 8 / 208 Japanese	0.03922 8 / 204 Indian Telugu	0.00588 1 / 170 Peruvian
0.02525 5 / 198 Utah Europeans	0.11947 27 / 226 Gambian	0.00505 1 / 198 Kinh, Vietnam	0.05208 10 / 192 Punjabi, Lahore	0.03846 8 / 208 Puerto Rican
	0.11616 23 / 198 Luhya, Kenya	0.01905 4 / 210 Southern Han	0.03431 7 / 204 Tamil
	0.16471 28 / 170 Mende
	0.10185 22 / 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 75% of algorithms have predicted that this variant will adversely affect protein function
damaging	conservative	probably damaging	probably damaging
LRT	MutationTaster	MutationAssessor	FATHMM
deleterious	disease-causing	medium 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.