PLEC : c.6395C>T

PLEC gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.6395C>Tp.A2132V (Ala > Val)substitutionmissense chr8:144997783 (reverse strand)0.07614409

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.07614409 (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
ExAC0.04873622
2202 / 45182		0.00800164
39 / 4874		0.02824302
172 / 6090		0.15030452
2073 / 13792		0.17681473
1632 / 9230		0.05199253
167 / 3212		0.05457746
31 / 568		0.07614409
6316 / 82948
ESP 0.03724
285 / 7654		 0.00876
31 / 3540		 0.02823
316 / 11194
1KG
 0.03589
29 / 808		 0.00151
2 / 1322		 0.04365
44 / 1008		 0.15337
150 / 978		 0.13545
94 / 694		 0.04040
8 / 198		 0.06530
327 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.03297
6 / 182
British
0.00820
1 / 122
African-American
0.06989
13 / 186
Chinese Dai
0.14535
25 / 172
Bengali
0.09574
18 / 188
Colombian
0.03271
7 / 214
Iberian
0.00521
1 / 192
African-Caribbean
0.00971
2 / 206
Han, Beijing
0.16505
34 / 206
Gujarati Indian
0.10156
13 / 128
Mexican, LA
0.03738
8 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.04327
9 / 208
Japanese
0.17647
36 / 204
Indian Telugu
0.23529
40 / 170
Peruvian
0.04040
8 / 198
Utah Europeans
0.00000
0 / 226
Gambian
0.07071
14 / 198
Kinh, Vietnam
0.14583
28 / 192
Punjabi, Lahore
0.11058
23 / 208
Puerto Rican
0.00000
0 / 198
Luhya, Kenya
0.02857
6 / 210
Southern Han
0.13235
27 / 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
0% of algorithms have predicted that this variant will adversely affect protein function
tolerated moderately conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
unknown polymorphism 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.