LRP1 : c.8702-5C>T

LRP1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.8702-5C>Tsubstitutionsplice site chr12:57589865 (forward strand)0.61602352

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.61602352 (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
ExAC0.67304731
44584 / 66242		0.22157548
2284 / 10308		0.55542590
4760 / 8570		0.78745858
12834 / 16298		0.44834173
5164 / 11518		0.60627284
3982 / 6568		0.62639821
560 / 894		0.61602352
74168 / 120398
ESP 0.68663
5905 / 8600		 0.24694
1088 / 4406		 0.53768
6993 / 13006
1KG
 0.70173
567 / 808		 0.14826
196 / 1322		 0.50099
505 / 1008		 0.78425
767 / 978		 0.53026
368 / 694		 0.62121
123 / 198		 0.50439
2526 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.65934
120 / 182
British
0.27869
34 / 122
African-American
0.43011
80 / 186
Chinese Dai
0.76163
131 / 172
Bengali
0.68085
128 / 188
Colombian
0.71495
153 / 214
Iberian
0.18750
36 / 192
African-Caribbean
0.50000
103 / 206
Han, Beijing
0.81068
167 / 206
Gujarati Indian
0.39062
50 / 128
Mexican, LA
0.72430
155 / 214
Toscani
0.13131
26 / 198
Esan, Nigeria
0.61538
128 / 208
Japanese
0.75980
155 / 204
Indian Telugu
0.41176
70 / 170
Peruvian
0.70202
139 / 198
Utah Europeans
0.09735
22 / 226
Gambian
0.41919
83 / 198
Kinh, Vietnam
0.75521
145 / 192
Punjabi, Lahore
0.57692
120 / 208
Puerto Rican
0.17677
35 / 198
Luhya, Kenya
0.52857
111 / 210
Southern Han
0.82843
169 / 204
Tamil
0.07647
13 / 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 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.