LIPC : c.1068C>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1068C>A	p.F356L (Phe > Leu)	substitution	missense	chr15:58853079 (forward strand)	0.96874845

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.96874845 (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	0.98375191 65571 / 66654	0.85718407 8913 / 10398	0.93745641 8064 / 8602	0.98752271 16304 / 16510	0.99022998 11453 / 11566	0.94763923 6262 / 6608	0.98008850 886 / 904	0.96874845 117453 / 121242
ESP	0.98532 8458 / 8584	0.86702 3801 / 4384						0.94533 12259 / 12968
1KG	0.98886 799 / 808	0.83132 1099 / 1322	0.94048 948 / 1008	0.98569 964 / 978	0.98703 685 / 694	0.97475 193 / 198		0.93610 4688 / 5008

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

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

0.98901 180 / 182 British	0.82787 101 / 122 African-American	0.97312 181 / 186 Chinese Dai	0.97093 167 / 172 Bengali	0.98404 185 / 188 Colombian
0.99065 212 / 214 Iberian	0.83333 160 / 192 African-Caribbean	0.93689 193 / 206 Han, Beijing	0.98544 203 / 206 Gujarati Indian	1.00000 128 / 128 Mexican, LA
0.99065 212 / 214 Toscani	0.83838 166 / 198 Esan, Nigeria	0.87500 182 / 208 Japanese	0.99510 203 / 204 Indian Telugu	1.00000 170 / 170 Peruvian
0.98485 195 / 198 Utah Europeans	0.87611 198 / 226 Gambian	0.96970 192 / 198 Kinh, Vietnam	0.98958 190 / 192 Punjabi, Lahore	0.97115 202 / 208 Puerto Rican
	0.76768 152 / 198 Luhya, Kenya	0.95238 200 / 210 Southern Han	0.98529 201 / 204 Tamil
	0.84118 143 / 170 Mende
	0.82870 179 / 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	ENST00000299022		NM_000236.2
Protein	ENSP00000299022			P11150

Missense Variant Predictions
SIFT	Grantham	Polyphen-DIV	Polyphen-VAR	Summary 25% of algorithms have predicted that this variant will adversely affect protein function
tolerated	conservative	benign	benign
LRT	MutationTaster	MutationAssessor	FATHMM
deleterious	polymorphism (auto)	medium impact	tolerated

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.