MYOM1 : c.1022G>C

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1022G>C	p.G341A (Gly > Ala)	substitution	missense	chr18:3176040 (reverse strand)	0.73841187

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.73841187 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

Detection in Population Databases

Database	European	African	East Asian	South Asian	American	Finnish	Other	Total
ExAC	0.70417464 46353 / 65826	0.79895535 7801 / 9764	0.75064358 6415 / 8546	0.79607030 13046 / 16388	0.77973140 8825 / 11318	0.76064319 4967 / 6530	0.73873874 656 / 888	0.73841187 88063 / 119260
ESP	0.71559 5968 / 8340	0.80813 3239 / 4008						0.74563 9207 / 12348
1KG	0.70792 572 / 808	0.78290 1035 / 1322	0.74206 748 / 1008	0.78630 769 / 978	0.75793 526 / 694	0.71717 142 / 198		0.75719 3792 / 5008

View sub-population details for 1000 Genomes (1KG) data

Hide sub-population details for 1000 Genomes (1KG) data

0.71978 131 / 182 British	0.82787 101 / 122 African-American	0.71505 133 / 186 Chinese Dai	0.80814 139 / 172 Bengali	0.67553 127 / 188 Colombian
0.70561 151 / 214 Iberian	0.75521 145 / 192 African-Caribbean	0.71845 148 / 206 Han, Beijing	0.79126 163 / 206 Gujarati Indian	0.76562 98 / 128 Mexican, LA
0.64486 138 / 214 Toscani	0.80808 160 / 198 Esan, Nigeria	0.75481 157 / 208 Japanese	0.80392 164 / 204 Indian Telugu	0.82941 141 / 170 Peruvian
0.76768 152 / 198 Utah Europeans	0.73009 165 / 226 Gambian	0.72222 143 / 198 Kinh, Vietnam	0.76042 146 / 192 Punjabi, Lahore	0.76923 160 / 208 Puerto Rican
	0.79293 157 / 198 Luhya, Kenya	0.79524 167 / 210 Southern Han	0.76961 157 / 204 Tamil
	0.75882 129 / 170 Mende
	0.82407 178 / 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	ENST00000356443	LRG_426t1	NM_003803.3
Protein	ENSP00000348821	LRG_426p1		P52179

Missense Variant Predictions
SIFT	Grantham	Polyphen-DIV	Polyphen-VAR	Summary 0% of algorithms have predicted that this variant will adversely affect protein function
	moderately conservative	benign	benign
LRT	MutationTaster	MutationAssessor	FATHMM
neutral	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.