MYH7 : c.732C>T

MYH7 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.732C>Tp.F244Fsubstitutionsplice site chr14:23900794 (reverse strand)0.18364523

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.18364523 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

HCM

OMGL: Detected in 0 / 3200 HCM patients.

LMM:   Detected in 0 / 2912 HCM patients.

DCM

OMGL: Detected in 0 / 559 DCM patients.

LMM:   Detected in 0 / 756 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
ExAC0.16179688
10798 / 66738		0.54814530
5704 / 10406		0.07106540
615 / 8654		0.18725775
3092 / 16512		0.10338573
1197 / 11578		0.11116152
735 / 6612		0.17070485
155 / 908		0.18364523
22296 / 121408
ESP 0.16802
1445 / 8600		 0.52497
2313 / 4406		 0.28894
3758 / 13006
1KG
 0.15965
129 / 808		 0.59758
790 / 1322		 0.09028
91 / 1008		 0.19223
188 / 978		 0.13112
91 / 694		 0.16162
32 / 198		 0.26378
1321 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.17033
31 / 182
British
0.55738
68 / 122
African-American
0.08065
15 / 186
Chinese Dai
0.13953
24 / 172
Bengali
0.15426
29 / 188
Colombian
0.21028
45 / 214
Iberian
0.53646
103 / 192
African-Caribbean
0.10680
22 / 206
Han, Beijing
0.22816
47 / 206
Gujarati Indian
0.07031
9 / 128
Mexican, LA
0.14486
31 / 214
Toscani
0.68687
136 / 198
Esan, Nigeria
0.03846
8 / 208
Japanese
0.16667
34 / 204
Indian Telugu
0.09412
16 / 170
Peruvian
0.11111
22 / 198
Utah Europeans
0.55752
126 / 226
Gambian
0.15152
30 / 198
Kinh, Vietnam
0.21875
42 / 192
Punjabi, Lahore
0.17788
37 / 208
Puerto Rican
0.61111
121 / 198
Luhya, Kenya
0.07619
16 / 210
Southern Han
0.20098
41 / 204
Tamil
0.61176
104 / 170
Mende
0.61111
132 / 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 ENST00000355349 LRG_384t1NM_000257.2
Protein ENSP00000347507 LRG_384p1P12883



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.