PLOD3 : c.1233-4G>A

PLOD3 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1233-4G>Asubstitutionsplice site chr7:100855001 (reverse strand)0.06826800

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.06826800 (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
ExAC0.01624819
673 / 41420		0.14768311
988 / 6690		0.10118407
564 / 5574		0.01932489
229 / 11850		0.39284622
2570 / 6542		0.02688638
62 / 2306		0.05252918
27 / 514		0.06826800
5113 / 74896
ESP 0.01210
104 / 8594		 0.11182
492 / 4400		 0.04587
596 / 12994
1KG
 0.00866
7 / 808		 0.12708
168 / 1322		 0.08631
87 / 1008		 0.01534
15 / 978		 0.28963
201 / 694		 0.00505
1 / 198		 0.09565
479 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.01648
3 / 182
British
0.09836
12 / 122
African-American
0.11290
21 / 186
Chinese Dai
0.02907
5 / 172
Bengali
0.18085
34 / 188
Colombian
0.00935
2 / 214
Iberian
0.10417
20 / 192
African-Caribbean
0.06796
14 / 206
Han, Beijing
0.02427
5 / 206
Gujarati Indian
0.27344
35 / 128
Mexican, LA
0.00467
1 / 214
Toscani
0.13131
26 / 198
Esan, Nigeria
0.04327
9 / 208
Japanese
0.01471
3 / 204
Indian Telugu
0.60588
103 / 170
Peruvian
0.00505
1 / 198
Utah Europeans
0.13274
30 / 226
Gambian
0.12626
25 / 198
Kinh, Vietnam
0.01042
2 / 192
Punjabi, Lahore
0.13942
29 / 208
Puerto Rican
0.13636
27 / 198
Luhya, Kenya
0.08571
18 / 210
Southern Han
0.00000
0 / 204
Tamil
0.13529
23 / 170
Mende
0.13889
30 / 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 ENST00000223127 NM_001084.4
Protein ENSP00000223127 O60568



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.