UNC45B : c.2555T>A

UNC45B gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2555T>Ap.I852N (Ile > Asn)substitutionmissense chr17:33513337 (forward strand)0.05591194

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.05591194 (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
ExAC0.07111571
4741 / 66666		0.01223743
127 / 10378		0.00000000
0 / 8646		0.06454545
1065 / 16500		0.02627939
304 / 11568		0.07423647
491 / 6614		0.05837004
53 / 908		0.05591194
6781 / 121280
ESP 0.07291
627 / 8600		 0.01475
65 / 4406		 0.05321
692 / 13006
1KG
 0.08540
69 / 808		 0.00530
7 / 1322		 0.00000
0 / 1008		 0.05010
49 / 978		 0.03170
22 / 694		 0.11111
22 / 198		 0.03375
169 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.08242
15 / 182
British
0.00820
1 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.04651
8 / 172
Bengali
0.04787
9 / 188
Colombian
0.07944
17 / 214
Iberian
0.01562
3 / 192
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.04854
10 / 206
Gujarati Indian
0.04688
6 / 128
Mexican, LA
0.09346
20 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.02941
6 / 204
Indian Telugu
0.01765
3 / 170
Peruvian
0.08586
17 / 198
Utah Europeans
0.00000
0 / 226
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.09375
18 / 192
Punjabi, Lahore
0.01923
4 / 208
Puerto Rican
0.01515
3 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.03431
7 / 204
Tamil
0.00000
0 / 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 ENST00000268876 NM_173167.2
Protein ENSP00000268876 Q8IWX7

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
75% of algorithms have predicted that this variant will adversely affect protein function
damaging moderately radical possibly damaging possibly damaging
LRT MutationTaster MutationAssessor FATHMM
deleterious polymorphism (auto) medium impact 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.