DMD : c.8729A>T

DMD gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.8729A>Tp.E2910V (Glu > Val)substitutionmissense chrX:31496431 (reverse strand)0.02190123

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.02190123 (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
ExAC0.01170335
561 / 47935		0.07335542
620 / 8452		0.04555053
302 / 6630		0.01227358
124 / 10103		0.02592234
241 / 9297		0.01436147
65 / 4526		0.00791139
5 / 632		0.02190123
1918 / 87575
ESP 0.00847
57 / 6728		 0.06861
263 / 3833		 0.03030
320 / 10561
1KG
 0.00987
6 / 608		 0.07617
78 / 1024		 0.04005
31 / 774		 0.00279
2 / 718		 0.02642
14 / 530		 0.02500
4 / 160		 0.03540
135 / 3814
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00000
0 / 136
British
0.08000
8 / 100
African-American
0.06250
9 / 144
Chinese Dai
0.00000
0 / 130
Bengali
0.01379
2 / 145
Colombian
0.00000
0 / 160
Iberian
0.02759
4 / 145
African-Caribbean
0.04294
7 / 163
Han, Beijing
0.00000
0 / 150
Gujarati Indian
0.03093
3 / 97
Mexican, LA
0.01242
2 / 161
Toscani
0.04054
6 / 148
Esan, Nigeria
0.03947
6 / 152
Japanese
0.00690
1 / 145
Indian Telugu
0.01550
2 / 129
Peruvian
0.02649
4 / 151
Utah Europeans
0.09827
17 / 173
Gambian
0.03871
6 / 155
Kinh, Vietnam
0.00694
1 / 144
Punjabi, Lahore
0.04403
7 / 159
Puerto Rican
0.08176
13 / 159
Luhya, Kenya
0.01875
3 / 160
Southern Han
0.00000
0 / 149
Tamil
0.13433
18 / 134
Mende
0.07273
12 / 165
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
12.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated moderately radical
LRT MutationTaster MutationAssessor FATHMM
unknown polymorphism (auto) neutral 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.