TGFBR2 : c.455-4T>A

TGFBR2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.455-4T>Asubstitutionsplice site chr3:30713126 (forward strand)0.29276603

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.29276603 (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
ExAC0.30490258
20312 / 66618		0.14992302
1558 / 10392		0.31564311
2724 / 8630		0.21382695
3529 / 16504		0.45033743
5205 / 11558		0.28787879
1900 / 6600		0.28429204
257 / 904		0.29276603
35485 / 121206
ESP 0.30826
2651 / 8600		 0.15252
672 / 4406		 0.25550
3323 / 13006
1KG
 0.32673
264 / 808		 0.14070
186 / 1322		 0.32639
329 / 1008		 0.23108
226 / 978		 0.42219
293 / 694		 0.32323
64 / 198		 0.27196
1362 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.34615
63 / 182
British
0.16393
20 / 122
African-American
0.25806
48 / 186
Chinese Dai
0.23837
41 / 172
Bengali
0.28191
53 / 188
Colombian
0.30374
65 / 214
Iberian
0.16667
32 / 192
African-Caribbean
0.32524
67 / 206
Han, Beijing
0.25243
52 / 206
Gujarati Indian
0.55469
71 / 128
Mexican, LA
0.30374
65 / 214
Toscani
0.11616
23 / 198
Esan, Nigeria
0.36538
76 / 208
Japanese
0.24020
49 / 204
Indian Telugu
0.50588
86 / 170
Peruvian
0.35859
71 / 198
Utah Europeans
0.10619
24 / 226
Gambian
0.35354
70 / 198
Kinh, Vietnam
0.19792
38 / 192
Punjabi, Lahore
0.39904
83 / 208
Puerto Rican
0.20202
40 / 198
Luhya, Kenya
0.32381
68 / 210
Southern Han
0.22549
46 / 204
Tamil
0.14118
24 / 170
Mende
0.10648
23 / 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 ENST00000295754 NM_003242.5
Protein ENSP00000295754 P37173



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.