DMD : c.1554T>A

DMD gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1554T>Ap.D518E (Asp > Glu)substitutionmissense chrX:32613922 (reverse strand)0.00380641

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.00380641 (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
ExAC0.00002206
1 / 45334		0.03643917
307 / 8425		0.00000000
0 / 6491		0.00000000
0 / 9447		0.00120959
11 / 9094		0.00000000
0 / 4408		0.00000000
0 / 607		0.00380641
319 / 83806
ESP 0.00000
0 / 6728		 0.03496
134 / 3833		 0.01269
134 / 10561
1KG
 0.00000
0 / 766		 0.04438
45 / 1014		 0.00000
0 / 764		 0.00000
0 / 718		 0.00382
2 / 524		 0.00000
0 / 160		 0.01241
47 / 3786
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00000
0 / 136
British
0.02083
2 / 96
African-American
0.00000
0 / 142
Chinese Dai
0.00000
0 / 130
Bengali
0.01379
2 / 145
Colombian
0.00000
0 / 160
Iberian
0.05442
8 / 147
African-Caribbean
0.00000
0 / 160
Han, Beijing
0.00000
0 / 150
Gujarati Indian
0.00000
0 / 96
Mexican, LA
0.00000
0 / 161
Toscani
0.05479
8 / 146
Esan, Nigeria
0.00000
0 / 152
Japanese
0.00000
0 / 145
Indian Telugu
0.00000
0 / 129
Peruvian
0.00000
0 / 149
Utah Europeans
0.02312
4 / 173
Gambian
0.00000
0 / 152
Kinh, Vietnam
0.00000
0 / 144
Punjabi, Lahore
0.00000
0 / 154
Puerto Rican
0.03871
6 / 155
Luhya, Kenya
0.00000
0 / 158
Southern Han
0.00000
0 / 149
Tamil
0.05344
7 / 131
Mende
0.06024
10 / 166
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
50% of algorithms have predicted that this variant will adversely affect protein function
tolerated conservative probably damaging probably damaging
LRT MutationTaster MutationAssessor FATHMM
unknown disease-causing 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.