PLEC : c.1592C>T

PLEC gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1592C>Tp.A531V (Ala > Val)substitutionmissense chr8:145007187 (reverse strand)0.36686723

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.36686723 (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
ExAC0.42759188
20267 / 47398		0.11893610
711 / 5978		0.18799250
1002 / 5330		0.36490434
4997 / 13694		0.26988017
1982 / 7344		0.44645992
1526 / 3418		0.40728477
246 / 604		0.36686723
30731 / 83766
ESP 0.37909
3151 / 8312		 0.10286
410 / 3986		 0.28956
3561 / 12298
1KG
 0.41955
339 / 808		 0.06051
80 / 1322		 0.13988
141 / 1008		 0.33742
330 / 978		 0.28674
199 / 694		 0.35354
70 / 198		 0.23143
1159 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.40110
73 / 182
British
0.09016
11 / 122
African-American
0.11828
22 / 186
Chinese Dai
0.33721
58 / 172
Bengali
0.34574
65 / 188
Colombian
0.42523
91 / 214
Iberian
0.08333
16 / 192
African-Caribbean
0.15049
31 / 206
Han, Beijing
0.34466
71 / 206
Gujarati Indian
0.20312
26 / 128
Mexican, LA
0.42991
92 / 214
Toscani
0.09091
18 / 198
Esan, Nigeria
0.17308
36 / 208
Japanese
0.33333
68 / 204
Indian Telugu
0.20000
34 / 170
Peruvian
0.41919
83 / 198
Utah Europeans
0.06195
14 / 226
Gambian
0.11616
23 / 198
Kinh, Vietnam
0.32812
63 / 192
Punjabi, Lahore
0.35577
74 / 208
Puerto Rican
0.02525
5 / 198
Luhya, Kenya
0.13810
29 / 210
Southern Han
0.34314
70 / 204
Tamil
0.02353
4 / 170
Mende
0.05556
12 / 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
tolerated moderately conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
unknown polymorphism (auto) neutral damaging


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.