PLEC : c.11680G>C

PLEC gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.11680G>Cp.D3894H (Asp > His)substitutionmissense chr8:144992390 (reverse strand)0.01077503

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.01077503 (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
ExAC0.00033500
15 / 44776		0.14251040
822 / 5768		0.00016015
1 / 6244		0.00064581
9 / 13936		0.00527303
45 / 8534		0.00000000
0 / 3442		0.00912409
5 / 548		0.01077503
897 / 83248
ESP 0.00025
2 / 8026		 0.10851
408 / 3760		 0.03479
410 / 11786
1KG
 0.00124
1 / 808		 0.13767
182 / 1322		 0.00000
0 / 1008		 0.00000
0 / 978		 0.00865
6 / 694		 0.00000
0 / 198		 0.03774
189 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00000
0 / 182
British
0.11475
14 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.00000
0 / 172
Bengali
0.01596
3 / 188
Colombian
0.00467
1 / 214
Iberian
0.11458
22 / 192
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.00000
0 / 206
Gujarati Indian
0.00000
0 / 128
Mexican, LA
0.00000
0 / 214
Toscani
0.13131
26 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.00000
0 / 204
Indian Telugu
0.00588
1 / 170
Peruvian
0.00000
0 / 198
Utah Europeans
0.11504
26 / 226
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.00000
0 / 192
Punjabi, Lahore
0.00962
2 / 208
Puerto Rican
0.12121
24 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.00000
0 / 204
Tamil
0.14706
25 / 170
Mende
0.20833
45 / 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 ENST00000436759 NM_000445.3
Protein ENSP00000388180

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) 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.