ADRB2 : c.79G>C

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.79G>C	p.E27Q (Glu > Gln)	substitution	missense	chr5:148206473 (forward strand)	0.68338276

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.68338276 (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
ExAC	0.58499700 39031 / 66720	0.82231405 8557 / 10406	0.91030975 7876 / 8652	0.79075824 13057 / 16512	0.83422645 9652 / 11570	0.62764670 4150 / 6612	0.68942731 626 / 908	0.68338276 82949 / 121380
ESP	0.57988 4987 / 8600	0.81639 3597 / 4406						0.66000 8584 / 13006
1KG	0.58045 469 / 808	0.86384 1142 / 1322	0.92659 934 / 1008	0.80675 789 / 978	0.75793 526 / 694	0.63131 125 / 198		0.79573 3985 / 5008

View sub-population details for 1000 Genomes (1KG) data

Hide sub-population details for 1000 Genomes (1KG) data

0.60440 110 / 182 British	0.87705 107 / 122 African-American	0.89785 167 / 186 Chinese Dai	0.82558 142 / 172 Bengali	0.77128 145 / 188 Colombian
0.57477 123 / 214 Iberian	0.83854 161 / 192 African-Caribbean	0.89320 184 / 206 Han, Beijing	0.77184 159 / 206 Gujarati Indian	0.85938 110 / 128 Mexican, LA
0.60748 130 / 214 Toscani	0.87879 174 / 198 Esan, Nigeria	0.94231 196 / 208 Japanese	0.82353 168 / 204 Indian Telugu	0.86471 147 / 170 Peruvian
0.53535 106 / 198 Utah Europeans	0.88496 200 / 226 Gambian	0.94444 187 / 198 Kinh, Vietnam	0.76562 147 / 192 Punjabi, Lahore	0.59615 124 / 208 Puerto Rican
	0.78788 156 / 198 Luhya, Kenya	0.95238 200 / 210 Southern Han	0.84804 173 / 204 Tamil
	0.90588 154 / 170 Mende
	0.87963 190 / 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	ENST00000305988		NM_000024.5
Protein	ENSP00000305372			P07550

Missense Variant Predictions
SIFT	Grantham	Polyphen-DIV	Polyphen-VAR	Summary 0% of algorithms have predicted that this variant will adversely affect protein function
tolerated	conservative	benign	benign
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.