LRP1 : c.3546C>T

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.3546C>T	p.C1182C	substitution	splice site	chr12:57567762 (forward strand)	0.35464092

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.35464092 (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
ExAC	0.32804733 21514 / 65582	0.48672912 4988 / 10248	0.38993637 3309 / 8486	0.21121850 3453 / 16348	0.53820423 6114 / 11360	0.40776545 2573 / 6310	0.37162162 330 / 888	0.35464092 42281 / 119222
ESP	0.31279 2690 / 8600	0.47322 2085 / 4406						0.36714 4775 / 13006
1KG	0.29827 241 / 808	0.51967 687 / 1322	0.43353 437 / 1008	0.20961 205 / 978	0.44236 307 / 694	0.37374 74 / 198		0.38958 1951 / 5008

View sub-population details for 1000 Genomes (1KG) data

Hide sub-population details for 1000 Genomes (1KG) data

0.33516 61 / 182 British	0.52459 64 / 122 African-American	0.48925 91 / 186 Chinese Dai	0.22093 38 / 172 Bengali	0.29255 55 / 188 Colombian
0.28505 61 / 214 Iberian	0.50000 96 / 192 African-Caribbean	0.43689 90 / 206 Han, Beijing	0.18932 39 / 206 Gujarati Indian	0.58594 75 / 128 Mexican, LA
0.28037 60 / 214 Toscani	0.42424 84 / 198 Esan, Nigeria	0.34615 72 / 208 Japanese	0.23529 48 / 204 Indian Telugu	0.57059 97 / 170 Peruvian
0.29798 59 / 198 Utah Europeans	0.55752 126 / 226 Gambian	0.47475 94 / 198 Kinh, Vietnam	0.23958 46 / 192 Punjabi, Lahore	0.38462 80 / 208 Puerto Rican
	0.58586 116 / 198 Luhya, Kenya	0.42857 90 / 210 Southern Han	0.16667 34 / 204 Tamil
	0.52353 89 / 170 Mende
	0.51852 112 / 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.