PLEC : c.9182C>T

PLEC gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.9182C>Tp.A3061V (Ala > Val)substitutionmissense chr8:144994888 (reverse strand)0.05684994

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.05684994 (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
ExAC0.08330145
5225 / 62724		0.01268246
106 / 8358		0.00000000
0 / 8380		0.01132865
184 / 16242		0.04138113
471 / 11382		0.07134165
469 / 6574		0.06455399
55 / 852		0.05684994
6510 / 114512
ESP 0.07309
611 / 8360		 0.01407
59 / 4194		 0.05337
670 / 12554
1KG
 0.09653
78 / 808		 0.00303
4 / 1322		 0.00000
0 / 1008		 0.00716
7 / 978		 0.05187
36 / 694		 0.06566
13 / 198		 0.02756
138 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.09341
17 / 182
British
0.02459
3 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.00581
1 / 172
Bengali
0.07979
15 / 188
Colombian
0.09346
20 / 214
Iberian
0.00521
1 / 192
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.00971
2 / 206
Gujarati Indian
0.03125
4 / 128
Mexican, LA
0.09813
21 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.00000
0 / 204
Indian Telugu
0.01765
3 / 170
Peruvian
0.10101
20 / 198
Utah Europeans
0.00000
0 / 226
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.02083
4 / 192
Punjabi, Lahore
0.06731
14 / 208
Puerto Rican
0.00000
0 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.00000
0 / 204
Tamil
0.00000
0 / 170
Mende
0.00000
0 / 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
12.5% of algorithms have predicted that this variant will adversely affect protein function
damaging moderately conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
unknown polymorphism 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.