MYH11 : c.1249-11G>C

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1249-11G>C		substitution	splice site	chr16:15853596 (reverse strand)	0.41639010

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.41639010 (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	0.36262309 24010 / 66212	0.67620976 7015 / 10374	0.69836830 5992 / 8580	0.40843447 6731 / 16480	0.33216538 3792 / 11416	0.34690454 2275 / 6558	0.40929204 370 / 904	0.41639010 50185 / 120524
ESP	0.00000 0 / 8600	0.00000 0 / 4400						0.00000 0 / 13000
1KG	0.37500 303 / 808	0.73525 972 / 1322	0.65675 662 / 1008	0.41104 402 / 978	0.37752 262 / 694	0.37879 75 / 198		0.53435 2676 / 5008

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

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

0.36813 67 / 182 British	0.68033 83 / 122 African-American	0.58602 109 / 186 Chinese Dai	0.47093 81 / 172 Bengali	0.33511 63 / 188 Colombian
0.37850 81 / 214 Iberian	0.69271 133 / 192 African-Caribbean	0.73786 152 / 206 Han, Beijing	0.32039 66 / 206 Gujarati Indian	0.31250 40 / 128 Mexican, LA
0.34112 73 / 214 Toscani	0.78283 155 / 198 Esan, Nigeria	0.64423 134 / 208 Japanese	0.39706 81 / 204 Indian Telugu	0.36471 62 / 170 Peruvian
0.41414 82 / 198 Utah Europeans	0.70796 160 / 226 Gambian	0.56566 112 / 198 Kinh, Vietnam	0.43750 84 / 192 Punjabi, Lahore	0.46635 97 / 208 Puerto Rican
	0.79293 157 / 198 Luhya, Kenya	0.73810 155 / 210 Southern Han	0.44118 90 / 204 Tamil
	0.72941 124 / 170 Mende
	0.74074 160 / 216 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	ENST00000300036		NM_002474.2
Protein	ENSP00000300036			P35749

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.