UBE2D4 : c.24+6C>A

UBE2D4 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.24+6C>Asubstitutionsplice site chr7:43966161 (forward strand)0.06182995

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.06182995 (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
ExAC0.04845254
2436 / 50276		0.15524457
1187 / 7646		0.14463914
974 / 6734		0.01411974
175 / 12394		0.05830147
427 / 7324		0.06618382
265 / 4004		0.06250000
38 / 608		0.06182995
5502 / 88986
ESP 0.04327
372 / 8598		 0.12784
563 / 4404		 0.07191
935 / 13002
1KG
 0.05817
47 / 808		 0.14297
189 / 1322		 0.12103
122 / 1008		 0.00511
5 / 978		 0.07061
49 / 694		 0.03535
7 / 198		 0.08367
419 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.03846
7 / 182
British
0.17213
21 / 122
African-American
0.06989
13 / 186
Chinese Dai
0.00581
1 / 172
Bengali
0.06383
12 / 188
Colombian
0.07477
16 / 214
Iberian
0.11458
22 / 192
African-Caribbean
0.07767
16 / 206
Han, Beijing
0.00000
0 / 206
Gujarati Indian
0.07812
10 / 128
Mexican, LA
0.05607
12 / 214
Toscani
0.10606
21 / 198
Esan, Nigeria
0.20192
42 / 208
Japanese
0.00490
1 / 204
Indian Telugu
0.04118
7 / 170
Peruvian
0.06061
12 / 198
Utah Europeans
0.09735
22 / 226
Gambian
0.09596
19 / 198
Kinh, Vietnam
0.01042
2 / 192
Punjabi, Lahore
0.09615
20 / 208
Puerto Rican
0.24242
48 / 198
Luhya, Kenya
0.15238
32 / 210
Southern Han
0.00490
1 / 204
Tamil
0.15294
26 / 170
Mende
0.13426
29 / 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 ENST00000222402 NM_015983.3
Protein ENSP00000222402 Q9Y2X8



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.