HADHB : c.1149+4A>T

HADHB gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1149+4A>Tsubstitutionsplice site chr2:26507076 (forward strand)0.13787137

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.13787137 (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
ExAC0.05881648
3924 / 66716		0.03174298
330 / 10396		0.76005548
6576 / 8652		0.05723804
945 / 16510		0.38555882
4464 / 11578		0.05987300
396 / 6614		0.10903084
99 / 908		0.13787137
16734 / 121374
ESP 0.06151
529 / 8600		 0.03246
143 / 4406		 0.05167
672 / 13006
1KG
 0.06931
56 / 808		 0.02269
30 / 1322		 0.73909
745 / 1008		 0.06135
60 / 978		 0.29539
205 / 694		 0.06566
13 / 198		 0.22145
1109 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.10440
19 / 182
British
0.04098
5 / 122
African-American
0.67204
125 / 186
Chinese Dai
0.09884
17 / 172
Bengali
0.24468
46 / 188
Colombian
0.04673
10 / 214
Iberian
0.03125
6 / 192
African-Caribbean
0.82039
169 / 206
Han, Beijing
0.03398
7 / 206
Gujarati Indian
0.38281
49 / 128
Mexican, LA
0.05607
12 / 214
Toscani
0.01515
3 / 198
Esan, Nigeria
0.77404
161 / 208
Japanese
0.01961
4 / 204
Indian Telugu
0.51765
88 / 170
Peruvian
0.07576
15 / 198
Utah Europeans
0.02655
6 / 226
Gambian
0.66667
132 / 198
Kinh, Vietnam
0.07292
14 / 192
Punjabi, Lahore
0.10577
22 / 208
Puerto Rican
0.01010
2 / 198
Luhya, Kenya
0.75238
158 / 210
Southern Han
0.08824
18 / 204
Tamil
0.01765
3 / 170
Mende
0.02315
5 / 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 ENST00000317799 NM_000183.2
Protein ENSP00000325136 P55084



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.