TGFB1 : c.29C>T

TGFB1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.29C>Tp.P10L (Pro > Leu)substitutionmissense chr19:41858921 (reverse strand)0.56228983

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.56228983 (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
ExAC0.57912271
2086 / 3602		0.62625000
501 / 800		0.48095238
101 / 210		0.54887417
4144 / 7550		0.58510638
110 / 188		0.91666667
11 / 12		0.54687500
70 / 128		0.56228983
7023 / 12490
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.59035
477 / 808		 0.58623
775 / 1322		 0.44544
449 / 1008		 0.55419
542 / 978		 0.49424
343 / 694		 0.73232
145 / 198		 0.54533
2731 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.67582
123 / 182
British
0.62295
76 / 122
African-American
0.37097
69 / 186
Chinese Dai
0.56395
97 / 172
Bengali
0.51064
96 / 188
Colombian
0.57944
124 / 214
Iberian
0.59375
114 / 192
African-Caribbean
0.51942
107 / 206
Han, Beijing
0.52913
109 / 206
Gujarati Indian
0.54688
70 / 128
Mexican, LA
0.50935
109 / 214
Toscani
0.54040
107 / 198
Esan, Nigeria
0.52404
109 / 208
Japanese
0.55392
113 / 204
Indian Telugu
0.40588
69 / 170
Peruvian
0.61111
121 / 198
Utah Europeans
0.66372
150 / 226
Gambian
0.40404
80 / 198
Kinh, Vietnam
0.54688
105 / 192
Punjabi, Lahore
0.51923
108 / 208
Puerto Rican
0.56061
111 / 198
Luhya, Kenya
0.40000
84 / 210
Southern Han
0.57843
118 / 204
Tamil
0.57059
97 / 170
Mende
0.55556
120 / 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 ENST00000221930 NM_000660.4
Protein ENSP00000221930 P01137

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
0% of algorithms have predicted that this variant will adversely affect protein function
tolerated moderately conservative
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) 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.