DMD : c.5234G>A

DMD gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.5234G>Ap.R1745H (Arg > His)substitutionmissense chrX:32380996 (reverse strand)0.51416735

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.51416735 (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
ExAC0.48225983
22971 / 47632		0.07819318
663 / 8479		0.73709849
4842 / 6569		0.66574037
6708 / 10076		0.74503883
6908 / 9272		0.53480589
2397 / 4482		0.50079745
314 / 627		0.51416735
44803 / 87137
ESP 0.47696
3209 / 6728		 0.08062
309 / 3833		 0.33311
3518 / 10561
1KG
 0.37752
262 / 694		 0.02868
29 / 1011		 0.57435
533 / 928		 0.55395
498 / 899		 0.54299
341 / 628		 0.51381
93 / 181		 0.40452
1756 / 4341
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.33121
52 / 157
British
0.10101
10 / 99
African-American
0.62857
110 / 175
Chinese Dai
0.57669
94 / 163
Bengali
0.52976
89 / 168
Colombian
0.38172
71 / 186
Iberian
0.02740
4 / 146
African-Caribbean
0.59794
116 / 194
Han, Beijing
0.49444
89 / 180
Gujarati Indian
0.61157
74 / 121
Mexican, LA
0.39560
72 / 182
Toscani
0.00690
1 / 145
Esan, Nigeria
0.48387
90 / 186
Japanese
0.53804
99 / 184
Indian Telugu
0.67470
112 / 166
Peruvian
0.39645
67 / 169
Utah Europeans
0.04046
7 / 173
Gambian
0.57065
105 / 184
Kinh, Vietnam
0.58427
104 / 178
Punjabi, Lahore
0.38150
66 / 173
Puerto Rican
0.02581
4 / 155
Luhya, Kenya
0.59259
112 / 189
Southern Han
0.57732
112 / 194
Tamil
0.00775
1 / 129
Mende
0.01220
2 / 164
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
37.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated conservative probably damaging probably damaging
LRT MutationTaster MutationAssessor FATHMM
unknown polymorphism (auto) medium impact 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.