CUL3 : c.1699G>A

CUL3 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1699G>Ap.V567I (Val > Ile)substitutionmissense chr2:225362478 (reverse strand)0.12798027

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.12798027 (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
ExAC0.09550815
6366 / 66654		0.02521655
262 / 10390		0.27721049
2389 / 8618		0.20015756
3303 / 16502		0.21269044
2457 / 11552		0.09650986
636 / 6590		0.11013216
100 / 908		0.12798027
15513 / 121214
ESP 0.09430
811 / 8600		 0.02610
115 / 4406		 0.07120
926 / 13006
1KG
 0.08168
66 / 808		 0.01286
17 / 1322		 0.23909
241 / 1008		 0.23108
226 / 978		 0.18588
129 / 694		 0.09596
19 / 198		 0.13938
698 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.07143
13 / 182
British
0.06557
8 / 122
African-American
0.22043
41 / 186
Chinese Dai
0.22674
39 / 172
Bengali
0.18085
34 / 188
Colombian
0.09813
21 / 214
Iberian
0.00000
0 / 192
African-Caribbean
0.25728
53 / 206
Han, Beijing
0.20388
42 / 206
Gujarati Indian
0.19531
25 / 128
Mexican, LA
0.07944
17 / 214
Toscani
0.00505
1 / 198
Esan, Nigeria
0.26442
55 / 208
Japanese
0.24020
49 / 204
Indian Telugu
0.21176
36 / 170
Peruvian
0.07576
15 / 198
Utah Europeans
0.01770
4 / 226
Gambian
0.20202
40 / 198
Kinh, Vietnam
0.20833
40 / 192
Punjabi, Lahore
0.16346
34 / 208
Puerto Rican
0.01515
3 / 198
Luhya, Kenya
0.24762
52 / 210
Southern Han
0.27451
56 / 204
Tamil
0.00588
1 / 170
Mende
0.00000
0 / 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 ENST00000264414 NM_003590.3
Protein ENSP00000264414 Q13618

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
deleterious polymorphism (auto) neutral 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.