MYH6 : c.3302T>C

MYH6 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.3302T>Cp.V1101A (Val > Ala)substitutionmissense chr14:23861811 (reverse strand)0.34609809

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.34609809 (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
ExAC0.36349197
24258 / 66736		0.62944455
6550 / 10406		0.16732147
1448 / 8654		0.30922965
5106 / 16512		0.22011057
2548 / 11576		0.27132486
1794 / 6612		0.34547461
313 / 906		0.34609809
42017 / 121402
ESP 0.37372
3214 / 8600		 0.61552
2712 / 4406		 0.45564
5926 / 13006
1KG
 0.36881
298 / 808		 0.64372
851 / 1322		 0.15972
161 / 1008		 0.31800
311 / 978		 0.29251
203 / 694		 0.26768
53 / 198		 0.37480
1877 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.39560
72 / 182
British
0.54918
67 / 122
African-American
0.12366
23 / 186
Chinese Dai
0.22674
39 / 172
Bengali
0.38298
72 / 188
Colombian
0.37850
81 / 214
Iberian
0.63542
122 / 192
African-Caribbean
0.18932
39 / 206
Han, Beijing
0.36408
75 / 206
Gujarati Indian
0.24219
31 / 128
Mexican, LA
0.40654
87 / 214
Toscani
0.70707
140 / 198
Esan, Nigeria
0.12500
26 / 208
Japanese
0.29412
60 / 204
Indian Telugu
0.11765
20 / 170
Peruvian
0.29293
58 / 198
Utah Europeans
0.61947
140 / 226
Gambian
0.18687
37 / 198
Kinh, Vietnam
0.36458
70 / 192
Punjabi, Lahore
0.38462
80 / 208
Puerto Rican
0.68182
135 / 198
Luhya, Kenya
0.17143
36 / 210
Southern Han
0.32843
67 / 204
Tamil
0.60000
102 / 170
Mende
0.67130
145 / 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
0% of algorithms have predicted that this variant will adversely affect protein function
tolerated moderately conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
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.