DSG2 : c.2318G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.2318G>A	p.R773K (Arg > Lys)	substitution	missense	chr18:29122799 (forward strand)	0.26756867

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.26756867 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

DCM	OMGL: Detected in 0 / 304 DCM patients. LMM: Detected in 0 / 123 DCM patients.
ARVC	OMGL: Detected in 0 / 354 ARVC patients sequenced at OMGL.

DCM

OMGL: Detected in 0 / 304 DCM patients.

LMM: Detected in 0 / 123 DCM patients.

ARVC

OMGL: Detected in 0 / 354 ARVC patients sequenced at OMGL.

For more information on the clinical significance of this variant, please see the ClinVar entry.

Detection in Population Databases

Database	European	African	East Asian	South Asian	American	Finnish	Other	Total
ExAC	0.25648482 16493 / 64304	0.07423352 707 / 9524	0.47479191 3993 / 8410	0.27063689 3272 / 12090	0.29227941 3339 / 11424	0.34246575 2250 / 6570	0.26738609 223 / 834	0.26756867 30277 / 113156
ESP	0.25404 2109 / 8302	0.07784 307 / 3944						0.19729 2416 / 12246
1KG	0.24505 198 / 808	0.03328 44 / 1322	0.46429 468 / 1008	0.25562 250 / 978	0.25360 176 / 694	0.33333 66 / 198		0.24002 1202 / 5008

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

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

0.23077 42 / 182 British	0.05738 7 / 122 African-American	0.45699 85 / 186 Chinese Dai	0.29651 51 / 172 Bengali	0.26064 49 / 188 Colombian
0.27570 59 / 214 Iberian	0.04688 9 / 192 African-Caribbean	0.44175 91 / 206 Han, Beijing	0.21359 44 / 206 Gujarati Indian	0.33594 43 / 128 Mexican, LA
0.19159 41 / 214 Toscani	0.02525 5 / 198 Esan, Nigeria	0.56250 117 / 208 Japanese	0.24510 50 / 204 Indian Telugu	0.23529 40 / 170 Peruvian
0.28283 56 / 198 Utah Europeans	0.03540 8 / 226 Gambian	0.41414 82 / 198 Kinh, Vietnam	0.26042 50 / 192 Punjabi, Lahore	0.21154 44 / 208 Puerto Rican
	0.02020 4 / 198 Luhya, Kenya	0.44286 93 / 210 Southern Han	0.26961 55 / 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	ENST00000261590	LRG_397t1	NM_001943.3
Protein	ENSP00000261590	LRG_397p1		Q14126

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.