ADRB2 : c.46G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.46G>A	p.G16R (Gly > Arg)	substitution	missense	chr5:148206440 (forward strand)	0.42035996

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.42035996 (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	0.38095381 25418 / 66722	0.49327182 5132 / 10404	0.54797219 4729 / 8630	0.45603198 7530 / 16512	0.42032492 4864 / 11572	0.44595822 2946 / 6606	0.43333333 390 / 900	0.42035996 51009 / 121346
ESP	0.37779 3249 / 8600	0.48729 2147 / 4406						0.41488 5396 / 13006
1KG	0.37871 306 / 808	0.52042 688 / 1322	0.54861 553 / 1008	0.44581 436 / 978	0.45677 317 / 694	0.41414 82 / 198		0.47564 2382 / 5008

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

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

0.41758 76 / 182 British	0.54918 67 / 122 African-American	0.58065 108 / 186 Chinese Dai	0.43023 74 / 172 Bengali	0.51596 97 / 188 Colombian
0.38318 82 / 214 Iberian	0.51042 98 / 192 African-Caribbean	0.54854 113 / 206 Han, Beijing	0.43204 89 / 206 Gujarati Indian	0.47656 61 / 128 Mexican, LA
0.36916 79 / 214 Toscani	0.51515 102 / 198 Esan, Nigeria	0.44231 92 / 208 Japanese	0.47549 97 / 204 Indian Telugu	0.43529 74 / 170 Peruvian
0.34848 69 / 198 Utah Europeans	0.53097 120 / 226 Gambian	0.56566 112 / 198 Kinh, Vietnam	0.42708 82 / 192 Punjabi, Lahore	0.40865 85 / 208 Puerto Rican
	0.48990 97 / 198 Luhya, Kenya	0.60952 128 / 210 Southern Han	0.46078 94 / 204 Tamil
	0.52353 89 / 170 Mende
	0.53241 115 / 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 12.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated	moderately radical	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.