DMD : c.2645A>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.2645A>G	p.D882G (Asp > Gly)	substitution	missense	chrX:32503194 (reverse strand)	0.72107096

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.72107096 (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
ExAC	0.66438342 31814 / 47885	0.62817199 5347 / 8512	0.88367532 5857 / 6628	0.78291815 7920 / 10116	0.86610024 8053 / 9298	0.82148394 3709 / 4515	0.72107765 455 / 631	0.72107096 63155 / 87585
ESP	0.66290 4460 / 6728	0.62797 2407 / 3833						0.65022 6867 / 10561
1KG	0.53469 393 / 735	0.53428 639 / 1196	0.68873 666 / 967	0.63351 586 / 925	0.62538 409 / 654	0.69474 132 / 190		0.60531 2825 / 4667

View sub-population details for 1000 Genomes (1KG) data

Hide sub-population details for 1000 Genomes (1KG) data

0.52096 87 / 167 British	0.57895 66 / 114 African-American	0.70000 126 / 180 Chinese Dai	0.63804 104 / 163 Bengali	0.58286 102 / 175 Colombian
0.55276 110 / 199 Iberian	0.52695 88 / 167 African-Caribbean	0.70936 144 / 203 Han, Beijing	0.65263 124 / 190 Gujarati Indian	0.62698 79 / 126 Mexican, LA
0.55263 105 / 190 Toscani	0.54023 94 / 174 Esan, Nigeria	0.62694 121 / 193 Japanese	0.60209 115 / 191 Indian Telugu	0.72455 121 / 167 Peruvian
0.50838 91 / 179 Utah Europeans	0.54146 111 / 205 Gambian	0.69474 132 / 190 Kinh, Vietnam	0.67027 124 / 185 Punjabi, Lahore	0.57527 107 / 186 Puerto Rican
	0.51934 94 / 181 Luhya, Kenya	0.71144 143 / 201 Southern Han	0.60714 119 / 196 Tamil
	0.51923 81 / 156 Mende
	0.52764 105 / 199 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_199t1	NM_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	moderately conservative	benign	benign
LRT	MutationTaster	MutationAssessor	FATHMM
neutral	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.