ADRA2B : c.902_903insAGAGGA

ADRA2B gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.902_903insAGAGGAp.Glu299_Glu300dupinsertioninframe chr2:96780986-96780987 (reverse strand)0.00457967

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.00457967 (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
ExAC0.00351483
59 / 16786		0.00235849
7 / 2968		0.00148148
2 / 1350		0.00925684
71 / 7670		0.00227273
3 / 1320		0.00000000
0 / 1500		0.01398601
4 / 286		0.00457967
146 / 31880
ESP 0.00624
50 / 8600		 0.00671
27 / 4400		 0.00639
77 / 13000
1KG
 0.63116
397 / 629		 0.79463
681 / 857		 0.49398
410 / 830		 0.67183
477 / 710		 0.56915
321 / 564		 0.41040
71 / 173		 0.62636
2357 / 3763
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.58784
87 / 148
British
0.74699
62 / 83
African-American
0.47771
75 / 157
Chinese Dai
0.68800
86 / 125
Bengali
0.61935
96 / 155
Colombian
0.65823
104 / 158
Iberian
0.76984
97 / 126
African-Caribbean
0.42515
71 / 167
Han, Beijing
0.64634
106 / 164
Gujarati Indian
0.55556
55 / 99
Mexican, LA
0.68072
113 / 166
Toscani
0.87826
101 / 115
Esan, Nigeria
0.54268
89 / 164
Japanese
0.65772
98 / 149
Indian Telugu
0.52817
75 / 142
Peruvian
0.59236
93 / 157
Utah Europeans
0.73026
111 / 152
Gambian
0.56962
90 / 158
Kinh, Vietnam
0.66917
89 / 133
Punjabi, Lahore
0.56548
95 / 168
Puerto Rican
0.79104
106 / 134
Luhya, Kenya
0.46196
85 / 184
Southern Han
0.70504
98 / 139
Tamil
0.81308
87 / 107
Mende
0.83571
117 / 140
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 ENST00000409345 NM_000682.5
Protein ENSP00000387281



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.