BAG3 : c.451T>C

BAG3 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.451T>Cp.C151R (Cys > Arg)substitutionmissense chr10:121429633 (forward strand)0.17674243

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.17674243 (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
ExAC0.22141216
14456 / 65290		0.03858553
383 / 9926		0.00116741
10 / 8566		0.21087856
3466 / 16436		0.09533310
1099 / 11528		0.22567445
1489 / 6598		0.19187359
170 / 886		0.17674243
21073 / 119230
ESP 0.20731
1782 / 8596		 0.04136
182 / 4400		 0.15112
1964 / 12996
1KG
 0.21040
170 / 808		 0.01059
14 / 1322		 0.00198
2 / 1008		 0.17894
175 / 978		 0.10375
72 / 694		 0.25253
50 / 198		 0.09645
483 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.23077
42 / 182
British
0.02459
3 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.13953
24 / 172
Bengali
0.11702
22 / 188
Colombian
0.21495
46 / 214
Iberian
0.04688
9 / 192
African-Caribbean
0.00971
2 / 206
Han, Beijing
0.16019
33 / 206
Gujarati Indian
0.10938
14 / 128
Mexican, LA
0.15888
34 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.13725
28 / 204
Indian Telugu
0.06471
11 / 170
Peruvian
0.24242
48 / 198
Utah Europeans
0.00442
1 / 226
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.25000
48 / 192
Punjabi, Lahore
0.12019
25 / 208
Puerto Rican
0.00000
0 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.20588
42 / 204
Tamil
0.00588
1 / 170
Mende
0.00000
0 / 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 ENST00000369085 NM_004281.3
Protein ENSP00000358081 O95817

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
37.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated radical possibly damaging possibly damaging
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) neutral 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.