DSP : c.5213G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.5213G>A	p.R1738Q (Arg > Gln)	substitution	missense	chr6:7581636 (forward strand)	0.17240810

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.17240810 (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 / 352 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 / 352 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	0.12302815 8189 / 66562	0.32736944 3385 / 10340	0.19354466 1673 / 8644	0.23187000 3824 / 16492	0.21393939 2471 / 11550	0.17629271 1166 / 6614	0.18984547 172 / 906	0.17240810 20880 / 121108
ESP	0.12570 1081 / 8600	0.32773 1444 / 4406						0.19414 2525 / 13006
1KG	0.12252 99 / 808	0.37897 501 / 1322	0.19444 196 / 1008	0.24744 242 / 978	0.18588 129 / 694	0.18687 37 / 198		0.24042 1204 / 5008

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

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

0.10989 20 / 182 British	0.34426 42 / 122 African-American	0.16667 31 / 186 Chinese Dai	0.19767 34 / 172 Bengali	0.15426 29 / 188 Colombian
0.11215 24 / 214 Iberian	0.42188 81 / 192 African-Caribbean	0.20388 42 / 206 Han, Beijing	0.25243 52 / 206 Gujarati Indian	0.23438 30 / 128 Mexican, LA
0.15421 33 / 214 Toscani	0.38889 77 / 198 Esan, Nigeria	0.15385 32 / 208 Japanese	0.23039 47 / 204 Indian Telugu	0.18824 32 / 170 Peruvian
0.11111 22 / 198 Utah Europeans	0.30973 70 / 226 Gambian	0.21717 43 / 198 Kinh, Vietnam	0.28125 54 / 192 Punjabi, Lahore	0.18269 38 / 208 Puerto Rican
	0.35859 71 / 198 Luhya, Kenya	0.22857 48 / 210 Southern Han	0.26961 55 / 204 Tamil
	0.34706 59 / 170 Mende
	0.46759 101 / 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	ENST00000379802	LRG_423t1	NM_004415.2
Protein	ENSP00000369129	LRG_423p1		P15924

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.