PCSK9 : c.524-11G>A

PCSK9 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.524-11G>Asubstitutionsplice site chr1:55517940 (forward strand)0.05490439

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.05490439 (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
ExAC0.04810692
3207 / 66664		0.17986926
1871 / 10402		0.03109827
269 / 8650		0.04463961
737 / 16510		0.03412822
395 / 11574		0.02056244
136 / 6614		0.05077263
46 / 906		0.05490439
6661 / 121320
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.05446
44 / 808		 0.18986
251 / 1322		 0.02679
27 / 1008		 0.04806
47 / 978		 0.05331
37 / 694		 0.04545
9 / 198		 0.08287
415 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.05495
10 / 182
British
0.17213
21 / 122
African-American
0.01613
3 / 186
Chinese Dai
0.01744
3 / 172
Bengali
0.07447
14 / 188
Colombian
0.06542
14 / 214
Iberian
0.19792
38 / 192
African-Caribbean
0.02913
6 / 206
Han, Beijing
0.03883
8 / 206
Gujarati Indian
0.03906
5 / 128
Mexican, LA
0.05140
11 / 214
Toscani
0.20707
41 / 198
Esan, Nigeria
0.02404
5 / 208
Japanese
0.02451
5 / 204
Indian Telugu
0.02941
5 / 170
Peruvian
0.04545
9 / 198
Utah Europeans
0.19027
43 / 226
Gambian
0.02525
5 / 198
Kinh, Vietnam
0.07812
15 / 192
Punjabi, Lahore
0.06250
13 / 208
Puerto Rican
0.15657
31 / 198
Luhya, Kenya
0.03810
8 / 210
Southern Han
0.07843
16 / 204
Tamil
0.18235
31 / 170
Mende
0.21296
46 / 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 ENST00000302118 LRG_275t1NM_174936.3
Protein ENSP00000303208 LRG_275p1Q8NBP7



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.