TGFBR2 : c.263+7A>G

TGFBR2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.263+7A>Gsubstitutionsplice site chr3:30686414 (forward strand)0.37254805

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.37254805 (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
ExAC0.34222262
22714 / 66372		0.34619849
3579 / 10338		0.68967922
5934 / 8604		0.36114147
5948 / 16470		0.34869914
3994 / 11454		0.37686227
2479 / 6578		0.36061947
326 / 904		0.37254805
44974 / 120720
ESP 0.31605
2718 / 8600		 0.33227
1464 / 4406		 0.32154
4182 / 13006
1KG
 0.32921
266 / 808		 0.34191
452 / 1322		 0.70536
711 / 1008		 0.37014
362 / 978		 0.29683
206 / 694		 0.35859
71 / 198		 0.41294
2068 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.32418
59 / 182
British
0.28689
35 / 122
African-American
0.73656
137 / 186
Chinese Dai
0.40698
70 / 172
Bengali
0.23936
45 / 188
Colombian
0.30374
65 / 214
Iberian
0.36458
70 / 192
African-Caribbean
0.67961
140 / 206
Han, Beijing
0.33010
68 / 206
Gujarati Indian
0.38281
49 / 128
Mexican, LA
0.33645
72 / 214
Toscani
0.28283
56 / 198
Esan, Nigeria
0.67788
141 / 208
Japanese
0.38725
79 / 204
Indian Telugu
0.28824
49 / 170
Peruvian
0.35354
70 / 198
Utah Europeans
0.39823
90 / 226
Gambian
0.71212
141 / 198
Kinh, Vietnam
0.37500
72 / 192
Punjabi, Lahore
0.30288
63 / 208
Puerto Rican
0.30303
60 / 198
Luhya, Kenya
0.72381
152 / 210
Southern Han
0.35784
73 / 204
Tamil
0.39412
67 / 170
Mende
0.34259
74 / 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.