LIPC : c.283G>A

LIPC gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.283G>Ap.V95M (Val > Met)substitutionmissense chr15:58833993 (forward strand)0.07439992

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.07439992 (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
ExAC0.03098623
1953 / 63028		0.08358434
777 / 9296		0.33020883
2783 / 8428		0.10883364
1646 / 15124		0.07858601
847 / 10778		0.06365280
352 / 5530		0.06000000
48 / 800		0.07439992
8406 / 112984
ESP 0.02784
239 / 8584		 0.07459
327 / 4384		 0.04365
566 / 12968
1KG
 0.03837
31 / 808		 0.07867
104 / 1322		 0.32837
331 / 1008		 0.11554
113 / 978		 0.05620
39 / 694		 0.02020
4 / 198		 0.12420
622 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.02747
5 / 182
British
0.07377
9 / 122
African-American
0.36022
67 / 186
Chinese Dai
0.12209
21 / 172
Bengali
0.02128
4 / 188
Colombian
0.06075
13 / 214
Iberian
0.07812
15 / 192
African-Caribbean
0.31068
64 / 206
Han, Beijing
0.07767
16 / 206
Gujarati Indian
0.07031
9 / 128
Mexican, LA
0.02804
6 / 214
Toscani
0.09091
18 / 198
Esan, Nigeria
0.23558
49 / 208
Japanese
0.13235
27 / 204
Indian Telugu
0.09412
16 / 170
Peruvian
0.03535
7 / 198
Utah Europeans
0.06195
14 / 226
Gambian
0.41414
82 / 198
Kinh, Vietnam
0.12500
24 / 192
Punjabi, Lahore
0.04808
10 / 208
Puerto Rican
0.09596
19 / 198
Luhya, Kenya
0.32857
69 / 210
Southern Han
0.12255
25 / 204
Tamil
0.07647
13 / 170
Mende
0.07407
16 / 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
12.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) neutral damaging


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.