AGL : c.3343G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.3343G>A	p.G1115R (Gly > Arg)	substitution	missense	chr1:100361925 (forward strand)	0.06883855

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.06883855 (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	0.04817490 3215 / 66736	0.02826923 294 / 10400	0.16319926 1412 / 8652	0.04857074 802 / 16512	0.18422871 2133 / 11578	0.06713033 444 / 6614	0.06277533 57 / 908	0.06883855 8357 / 121400
ESP	0.04977 428 / 8600	0.02610 115 / 4406						0.04175 543 / 13006
1KG	0.05322 43 / 808	0.02572 34 / 1322	0.19345 195 / 1008	0.05624 55 / 978	0.14121 98 / 694	0.09091 18 / 198		0.08846 443 / 5008

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

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

0.05495 10 / 182 British	0.00820 1 / 122 African-American	0.20430 38 / 186 Chinese Dai	0.05233 9 / 172 Bengali	0.13298 25 / 188 Colombian
0.02336 5 / 214 Iberian	0.03646 7 / 192 African-Caribbean	0.22816 47 / 206 Han, Beijing	0.06311 13 / 206 Gujarati Indian	0.17969 23 / 128 Mexican, LA
0.06075 13 / 214 Toscani	0.03535 7 / 198 Esan, Nigeria	0.26442 55 / 208 Japanese	0.03431 7 / 204 Indian Telugu	0.18235 31 / 170 Peruvian
0.07576 15 / 198 Utah Europeans	0.03097 7 / 226 Gambian	0.12626 25 / 198 Kinh, Vietnam	0.06771 13 / 192 Punjabi, Lahore	0.09135 19 / 208 Puerto Rican
	0.00505 1 / 198 Luhya, Kenya	0.14286 30 / 210 Southern Han	0.06373 13 / 204 Tamil
	0.05294 9 / 170 Mende
	0.00926 2 / 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	ENST00000361915		NM_000642.2
Protein	ENSP00000355106			P35573

Missense Variant Predictions
SIFT	Grantham	Polyphen-DIV	Polyphen-VAR	Summary 75% of algorithms have predicted that this variant will adversely affect protein function
damaging	moderately radical	probably damaging	probably damaging
LRT	MutationTaster	MutationAssessor	FATHMM
deleterious	polymorphism (auto)	medium impact	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.