DMD : c.8810G>A

DMD gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.8810G>Ap.R2937Q (Arg > Gln)substitutionmissense chrX:31496350 (reverse strand)0.90452238

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.90452238 (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
ExAC0.94592670
45168 / 47750		0.98882616
8407 / 8502		0.92343916
6079 / 6583		0.71032265
7067 / 9949		0.78772351
7225 / 9172		0.94213221
4233 / 4493		0.93004769
585 / 629		0.90452238
78764 / 87078
ESP 0.93921
6319 / 6728		 0.98774
3786 / 3833		 0.95682
10105 / 10561
1KG
 0.71863
567 / 789		 0.75794
1002 / 1322		 0.71113
709 / 997		 0.52306
465 / 889		 0.65559
434 / 662		 0.77551
152 / 196		 0.68568
3329 / 4855
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.69714
122 / 175
British
0.78689
96 / 122
African-American
0.71429
130 / 182
Chinese Dai
0.49020
75 / 153
Bengali
0.69022
127 / 184
Colombian
0.72300
154 / 213
Iberian
0.75000
144 / 192
African-Caribbean
0.72906
148 / 203
Han, Beijing
0.54211
103 / 190
Gujarati Indian
0.60504
72 / 119
Mexican, LA
0.72038
152 / 211
Toscani
0.73232
145 / 198
Esan, Nigeria
0.71014
147 / 207
Japanese
0.49451
90 / 182
Indian Telugu
0.61146
96 / 157
Peruvian
0.73158
139 / 190
Utah Europeans
0.75664
171 / 226
Gambian
0.68718
134 / 195
Kinh, Vietnam
0.56111
101 / 180
Punjabi, Lahore
0.68812
139 / 202
Puerto Rican
0.77778
154 / 198
Luhya, Kenya
0.71429
150 / 210
Southern Han
0.52174
96 / 184
Tamil
0.75294
128 / 170
Mende
0.75926
164 / 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 ENST00000357033 LRG_199t1NM_004006.2
Protein ENSP00000354923 LRG_199p1

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) 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.