LRP1 : c.7919-10C>T

LRP1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.7919-10C>Tsubstitutionsplice site chr12:57588127 (forward strand)0.05221825

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.05221825 (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
ExAC0.02972457
1839 / 61868		0.06215441
607 / 9766		0.21391076
1793 / 8382		0.04371097
392 / 8968		0.03482237
396 / 11372		0.08147216
518 / 6358		0.08839050
67 / 758		0.05221825
5612 / 107472
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.02104
17 / 808		 0.04992
66 / 1322		 0.25198
254 / 1008		 0.05419
53 / 978		 0.05331
37 / 694		 0.07071
14 / 198		 0.08806
441 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.02198
4 / 182
British
0.04098
5 / 122
African-American
0.38710
72 / 186
Chinese Dai
0.08140
14 / 172
Bengali
0.01064
2 / 188
Colombian
0.02804
6 / 214
Iberian
0.04688
9 / 192
African-Caribbean
0.17961
37 / 206
Han, Beijing
0.02427
5 / 206
Gujarati Indian
0.03906
5 / 128
Mexican, LA
0.02336
5 / 214
Toscani
0.05051
10 / 198
Esan, Nigeria
0.18750
39 / 208
Japanese
0.04902
10 / 204
Indian Telugu
0.11176
19 / 170
Peruvian
0.01010
2 / 198
Utah Europeans
0.03982
9 / 226
Gambian
0.29293
58 / 198
Kinh, Vietnam
0.06771
13 / 192
Punjabi, Lahore
0.05288
11 / 208
Puerto Rican
0.07071
14 / 198
Luhya, Kenya
0.22857
48 / 210
Southern Han
0.05392
11 / 204
Tamil
0.05294
9 / 170
Mende
0.04630
10 / 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 ENST00000243077 NM_002332.2
Protein ENSP00000243077 Q07954



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.