MYH6 : c.3388G>A

MYH6 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.3388G>Ap.A1130T (Ala > Thr)substitutionmissense chr14:23859610 (reverse strand)0.10033088

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.10033088 (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
ExAC0.12171731
7082 / 58184		0.02611448
198 / 7582		0.07601573
580 / 7630		0.07161324
1108 / 15472		0.09960272
1053 / 10572		0.09310718
516 / 5542		0.09523810
76 / 798		0.10033088
10613 / 105780
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.14233
115 / 808		 0.00983
13 / 1322		 0.06052
61 / 1008		 0.07260
71 / 978		 0.12104
84 / 694		 0.10606
21 / 198		 0.07288
365 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.13736
25 / 182
British
0.04098
5 / 122
African-American
0.05376
10 / 186
Chinese Dai
0.05814
10 / 172
Bengali
0.16489
31 / 188
Colombian
0.17757
38 / 214
Iberian
0.03646
7 / 192
African-Caribbean
0.05340
11 / 206
Han, Beijing
0.07282
15 / 206
Gujarati Indian
0.09375
12 / 128
Mexican, LA
0.16355
35 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.06250
13 / 208
Japanese
0.05882
12 / 204
Indian Telugu
0.04118
7 / 170
Peruvian
0.08586
17 / 198
Utah Europeans
0.00442
1 / 226
Gambian
0.03535
7 / 198
Kinh, Vietnam
0.08854
17 / 192
Punjabi, Lahore
0.16346
34 / 208
Puerto Rican
0.00000
0 / 198
Luhya, Kenya
0.09524
20 / 210
Southern Han
0.08333
17 / 204
Tamil
0.00000
0 / 170
Mende
0.00000
0 / 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

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
37.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated moderately conservative possibly damaging possibly damaging
LRT MutationTaster MutationAssessor FATHMM
polymorphism (auto) low impact damaging


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.