LRP1 : c.8893-7C>T

LRP1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.8893-7C>Tsubstitutionsplice site chr12:57590758 (forward strand)0.36673707

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.36673707 (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
ExAC0.33760051
19146 / 56712		0.51560380
4560 / 8844		0.46129944
3266 / 7080		0.22099521
3322 / 15032		0.54259613
5108 / 9414		0.41202873
1836 / 4456		0.36639118
266 / 726		0.36673707
37504 / 102264
ESP 0.31073
2671 / 8596		 0.49909
2197 / 4402		 0.37452
4868 / 12998
1KG
 0.29827
241 / 808		 0.52723
697 / 1322		 0.50000
504 / 1008		 0.21370
209 / 978		 0.45533
316 / 694		 0.37879
75 / 198		 0.40775
2042 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.34066
62 / 182
British
0.50000
61 / 122
African-American
0.56989
106 / 186
Chinese Dai
0.23837
41 / 172
Bengali
0.30319
57 / 188
Colombian
0.28505
61 / 214
Iberian
0.56771
109 / 192
African-Caribbean
0.50485
104 / 206
Han, Beijing
0.18932
39 / 206
Gujarati Indian
0.60156
77 / 128
Mexican, LA
0.27570
59 / 214
Toscani
0.50000
99 / 198
Esan, Nigeria
0.38462
80 / 208
Japanese
0.23529
48 / 204
Indian Telugu
0.57647
98 / 170
Peruvian
0.29798
59 / 198
Utah Europeans
0.50885
115 / 226
Gambian
0.58081
115 / 198
Kinh, Vietnam
0.23958
46 / 192
Punjabi, Lahore
0.40385
84 / 208
Puerto Rican
0.53535
106 / 198
Luhya, Kenya
0.47143
99 / 210
Southern Han
0.17157
35 / 204
Tamil
0.52941
90 / 170
Mende
0.54167
117 / 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.