MYH6 : c.800-11A>G

MYH6 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.800-11A>Gsubstitutionsplice site chr14:23872666 (reverse strand)0.75650833

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.75650833 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

DCM

LMM:   Detected in 0 / 121 DCM patients.

For more information on the clinical significance of this variant, please see the ClinVar entry.

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.76237668
50849 / 66698		0.95144509
9876 / 10380		0.68496641
5914 / 8634		0.67319113
11109 / 16502		0.71595230
8285 / 11572		0.75846945
5015 / 6612		0.79405286
721 / 908		0.75650833
91769 / 121306
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.75866
613 / 808		 0.98411
1301 / 1322		 0.66171
667 / 1008		 0.67791
663 / 978		 0.78530
545 / 694		 0.71717
142 / 198		 0.78494
3931 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.79121
144 / 182
British
0.91803
112 / 122
African-American
0.63978
119 / 186
Chinese Dai
0.59884
103 / 172
Bengali
0.80319
151 / 188
Colombian
0.77103
165 / 214
Iberian
0.97917
188 / 192
African-Caribbean
0.58738
121 / 206
Han, Beijing
0.73301
151 / 206
Gujarati Indian
0.79688
102 / 128
Mexican, LA
0.74299
159 / 214
Toscani
0.97980
194 / 198
Esan, Nigeria
0.69231
144 / 208
Japanese
0.66667
136 / 204
Indian Telugu
0.73529
125 / 170
Peruvian
0.73232
145 / 198
Utah Europeans
0.99558
225 / 226
Gambian
0.66667
132 / 198
Kinh, Vietnam
0.71875
138 / 192
Punjabi, Lahore
0.80288
167 / 208
Puerto Rican
1.00000
198 / 198
Luhya, Kenya
0.71905
151 / 210
Southern Han
0.66176
135 / 204
Tamil
0.99412
169 / 170
Mende
0.99537
215 / 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 ENST00000356287 LRG_389t1NM_002471.3
Protein ENSP00000348634 LRG_389p1P13533



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.