HADHB : c.3_4insACT

HADHB gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.3_4insACTp.Met1_Thr2insThrinsertioninframe chr2:26477125-26477126 (forward strand)0.83154048

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.83154048 (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
ExAC0.93389719
62276 / 66684		0.87886448
9040 / 10286		0.18034682
1560 / 8650		0.84468137
13944 / 16508		0.60333506
6983 / 11574		0.93846386
6207 / 6614		0.87306843
791 / 906		0.83154048
100801 / 121222
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.91832
742 / 808		 0.87670
1159 / 1322		 0.17956
181 / 1008		 0.82924
811 / 978		 0.68444
475 / 694		 0.93434
185 / 198		 0.70946
3553 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.89011
162 / 182
British
0.86885
106 / 122
African-American
0.19892
37 / 186
Chinese Dai
0.77326
133 / 172
Bengali
0.73936
139 / 188
Colombian
0.93925
201 / 214
Iberian
0.87500
168 / 192
African-Caribbean
0.11165
23 / 206
Han, Beijing
0.88835
183 / 206
Gujarati Indian
0.60938
78 / 128
Mexican, LA
0.92523
198 / 214
Toscani
0.87374
173 / 198
Esan, Nigeria
0.18750
39 / 208
Japanese
0.84314
172 / 204
Indian Telugu
0.48235
82 / 170
Peruvian
0.91414
181 / 198
Utah Europeans
0.86283
195 / 226
Gambian
0.21717
43 / 198
Kinh, Vietnam
0.83333
160 / 192
Punjabi, Lahore
0.84615
176 / 208
Puerto Rican
0.87879
174 / 198
Luhya, Kenya
0.18571
39 / 210
Southern Han
0.79902
163 / 204
Tamil
0.93529
159 / 170
Mende
0.85185
184 / 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.