UBE4B : c.1713G>C

UBE4B gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1713G>Cp.L571F (Leu > Phe)substitutionmissense chr1:10190575 (forward strand)0.03578195

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.03578195 (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
ExAC0.02655318
1772 / 66734		0.05794734
603 / 10406		0.06924855
599 / 8650		0.02567829
424 / 16512		0.05182242
600 / 11578		0.04777744
316 / 6614		0.03303965
30 / 908		0.03578195
4344 / 121402
ESP 0.02512
216 / 8600		 0.05288
233 / 4406		 0.03452
449 / 13006
1KG
 0.02723
22 / 808		 0.06581
87 / 1322		 0.05258
53 / 1008		 0.02045
20 / 978		 0.04323
30 / 694		 0.03535
7 / 198		 0.04373
219 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.03297
6 / 182
British
0.04098
5 / 122
African-American
0.05914
11 / 186
Chinese Dai
0.01163
2 / 172
Bengali
0.06915
13 / 188
Colombian
0.03271
7 / 214
Iberian
0.07292
14 / 192
African-Caribbean
0.03883
8 / 206
Han, Beijing
0.00971
2 / 206
Gujarati Indian
0.04688
6 / 128
Mexican, LA
0.02336
5 / 214
Toscani
0.08081
16 / 198
Esan, Nigeria
0.03365
7 / 208
Japanese
0.02941
6 / 204
Indian Telugu
0.01765
3 / 170
Peruvian
0.02020
4 / 198
Utah Europeans
0.04867
11 / 226
Gambian
0.06566
13 / 198
Kinh, Vietnam
0.01562
3 / 192
Punjabi, Lahore
0.03846
8 / 208
Puerto Rican
0.10101
20 / 198
Luhya, Kenya
0.06667
14 / 210
Southern Han
0.03431
7 / 204
Tamil
0.02941
5 / 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 ENST00000343090 NM_001105562.2
Protein ENSP00000343001 O95155

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
50% of algorithms have predicted that this variant will adversely affect protein function
tolerated conservative probably damaging possibly damaging
LRT MutationTaster MutationAssessor FATHMM
deleterious disease-causing low 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.