PLEC : c.3838-6A>G

PLEC gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.3838-6A>Gsubstitutionsplice site chr8:145001509 (reverse strand)0.34372150

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.34372150 (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
ExAC0.41560851
27101 / 65208		0.08002984
751 / 9384		0.14841363
1263 / 8510		0.35984386
5900 / 16396		0.23075580
2644 / 11458		0.41035736
2710 / 6604		0.38812785
340 / 876		0.34372150
40709 / 118436
ESP 0.40873
3457 / 8458		 0.09095
388 / 4266		 0.30218
3845 / 12724
1KG
 0.43812
354 / 808		 0.02799
37 / 1322		 0.14286
144 / 1008		 0.34765
340 / 978		 0.29539
205 / 694		 0.38384
76 / 198		 0.23083
1156 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.41758
76 / 182
British
0.09016
11 / 122
African-American
0.12366
23 / 186
Chinese Dai
0.34302
59 / 172
Bengali
0.35106
66 / 188
Colombian
0.44860
96 / 214
Iberian
0.07292
14 / 192
African-Caribbean
0.14563
30 / 206
Han, Beijing
0.35437
73 / 206
Gujarati Indian
0.21094
27 / 128
Mexican, LA
0.44860
96 / 214
Toscani
0.02525
5 / 198
Esan, Nigeria
0.17308
36 / 208
Japanese
0.33333
68 / 204
Indian Telugu
0.20000
34 / 170
Peruvian
0.43434
86 / 198
Utah Europeans
0.02655
6 / 226
Gambian
0.11111
22 / 198
Kinh, Vietnam
0.33333
64 / 192
Punjabi, Lahore
0.37500
78 / 208
Puerto Rican
0.00505
1 / 198
Luhya, Kenya
0.15714
33 / 210
Southern Han
0.37255
76 / 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



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.