DMD : c.8027+11C>T

DMD gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.8027+11C>Tsubstitutionsplice site chrX:31676096 (reverse strand)0.33977601

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.33977601 (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
ExAC0.34961738
16539 / 47306		0.31604055
2650 / 8385		0.30474592
1997 / 6553		0.44557012
4486 / 10068		0.16957795
1563 / 9217		0.44357191
1977 / 4457		0.34615385
216 / 624		0.33977601
29428 / 86610
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.33333
223 / 669		 0.26885
296 / 1101		 0.25926
217 / 837		 0.37947
318 / 838		 0.18559
103 / 555		 0.45109
83 / 184		 0.29637
1240 / 4184
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.36842
56 / 152
British
0.28571
30 / 105
African-American
0.28846
45 / 156
Chinese Dai
0.38961
60 / 154
Bengali
0.24204
38 / 157
Colombian
0.31461
56 / 178
Iberian
0.28049
46 / 164
African-Caribbean
0.25287
44 / 174
Han, Beijing
0.33526
58 / 173
Gujarati Indian
0.14000
14 / 100
Mexican, LA
0.30058
52 / 173
Toscani
0.25157
40 / 159
Esan, Nigeria
0.25595
43 / 168
Japanese
0.39306
68 / 173
Indian Telugu
0.09023
12 / 133
Peruvian
0.35542
59 / 166
Utah Europeans
0.24731
46 / 186
Gambian
0.26380
43 / 163
Kinh, Vietnam
0.38323
64 / 167
Punjabi, Lahore
0.23636
39 / 165
Puerto Rican
0.30178
51 / 169
Luhya, Kenya
0.23864
42 / 176
Southern Han
0.39766
68 / 171
Tamil
0.22302
31 / 139
Mende
0.29050
52 / 179
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



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.