PDLIM3 : c.906C>T

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.906C>T	p.V302V	substitution	splice site	chr4:186423637 (reverse strand)	0.78301046

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.78301046 (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	0.84842620 56551 / 66654	0.37081479 3832 / 10334	0.80657103 6972 / 8644	0.74627318 12315 / 16502	0.75493421 8721 / 11552	0.87704174 5799 / 6612	0.78807947 714 / 906	0.78301046 94904 / 121204
ESP	0.85349 7340 / 8600	0.39060 1721 / 4406						0.69668 9061 / 13006
1KG	0.80817 653 / 808	0.31316 414 / 1322	0.81250 819 / 1008	0.70757 692 / 978	0.78963 548 / 694	0.89394 177 / 198		0.65954 3303 / 5008

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

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

0.85165 155 / 182 British	0.40984 50 / 122 African-American	0.84409 157 / 186 Chinese Dai	0.67442 116 / 172 Bengali	0.73936 139 / 188 Colombian
0.78972 169 / 214 Iberian	0.41667 80 / 192 African-Caribbean	0.78641 162 / 206 Han, Beijing	0.75243 155 / 206 Gujarati Indian	0.77344 99 / 128 Mexican, LA
0.71495 153 / 214 Toscani	0.24242 48 / 198 Esan, Nigeria	0.81731 170 / 208 Japanese	0.63725 130 / 204 Indian Telugu	0.86471 147 / 170 Peruvian
0.88889 176 / 198 Utah Europeans	0.27434 62 / 226 Gambian	0.84343 167 / 198 Kinh, Vietnam	0.81250 156 / 192 Punjabi, Lahore	0.78365 163 / 208 Puerto Rican
	0.34848 69 / 198 Luhya, Kenya	0.77619 163 / 210 Southern Han	0.66176 135 / 204 Tamil
	0.31765 54 / 170 Mende
	0.23611 51 / 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	ENST00000284770		NM_014476.4
Protein	ENSP00000284770			Q53GG5

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.