DSC2 : c.2393G>A

DSC2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2393G>Ap.R798Q (Arg > Gln)substitutionmissense chr18:28648975 (reverse strand)0.04949149

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.04949149 (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 / 351 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
ExAC0.05395479
3599 / 66704		0.00740100
77 / 10404		0.00104143
9 / 8642		0.07807389
1289 / 16510		0.01556555
180 / 11564		0.11905483
786 / 6602		0.07158590
65 / 908		0.04949149
6005 / 121334
ESP 0.04523
389 / 8600		 0.01271
56 / 4406		 0.03422
445 / 13006
1KG
 0.04703
38 / 808		 0.00227
3 / 1322		 0.00198
2 / 1008		 0.06135
60 / 978		 0.01153
8 / 694		 0.13636
27 / 198		 0.02756
138 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.02747
5 / 182
British
0.01639
2 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.05233
9 / 172
Bengali
0.01064
2 / 188
Colombian
0.04673
10 / 214
Iberian
0.00521
1 / 192
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.03883
8 / 206
Gujarati Indian
0.00000
0 / 128
Mexican, LA
0.04206
9 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.06863
14 / 204
Indian Telugu
0.00588
1 / 170
Peruvian
0.07071
14 / 198
Utah Europeans
0.00000
0 / 226
Gambian
0.01010
2 / 198
Kinh, Vietnam
0.08333
16 / 192
Punjabi, Lahore
0.02404
5 / 208
Puerto Rican
0.00000
0 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.06373
13 / 204
Tamil
0.00000
0 / 170
Mende
0.00000
0 / 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 ENST00000280904 LRG_400t2NM_024422.3
Protein ENSP00000280904 LRG_400p2Q02487

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 conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
polymorphism low impact damaging


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.