MYH6 : c.3979-8C>T

MYH6 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.3979-8C>Tsubstitutionsplice site chr14:23858272 (reverse strand)0.02308161

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.02308161 (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
ExAC0.00209254
18 / 8602		0.23995272
203 / 846		0.00216763
3 / 1384		0.06623932
124 / 1872		0.01159196
30 / 2588		0.00098425
1 / 1016		0.00000000
0 / 112		0.02308161
379 / 16420
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.00124
1 / 808		 0.03315
43 / 1297		 0.00000
0 / 1008		 0.01125
11 / 978		 0.00724
5 / 691		 0.00000
0 / 198		 0.01205
60 / 4980
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00000
0 / 182
British
0.00000
0 / 120
African-American
0.00000
0 / 186
Chinese Dai
0.01744
3 / 172
Bengali
0.00000
0 / 187
Colombian
0.00467
1 / 214
Iberian
0.01604
3 / 187
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.01456
3 / 206
Gujarati Indian
0.00000
0 / 127
Mexican, LA
0.00000
0 / 214
Toscani
0.01026
2 / 195
Esan, Nigeria
0.00000
0 / 208
Japanese
0.00980
2 / 204
Indian Telugu
0.01183
2 / 169
Peruvian
0.00000
0 / 198
Utah Europeans
0.08219
18 / 219
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.00521
1 / 192
Punjabi, Lahore
0.01442
3 / 208
Puerto Rican
0.02020
4 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.00980
2 / 204
Tamil
0.06667
11 / 165
Mende
0.02347
5 / 213
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.