MYOM1 : c.2879T>C

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.2879T>C	p.I960T (Ile > Thr)	substitution	missense	chr18:3126811 (reverse strand)	0.19973158

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.19973158 (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	0.15233727 9731 / 63878	0.27468354 2604 / 9480	0.33056158 2743 / 8298	0.25381001 3997 / 15748	0.24577687 2648 / 10774	0.18346774 1183 / 6448	0.18634259 161 / 864	0.19973158 23067 / 115490
ESP	0.14153 1175 / 8302	0.26050 1017 / 3904						0.17958 2192 / 12206
1KG	0.16089 130 / 808	0.31770 420 / 1322	0.32044 323 / 1008	0.24029 235 / 978	0.19885 138 / 694	0.14141 28 / 198		0.25439 1274 / 5008

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

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

0.14286 26 / 182 British	0.22951 28 / 122 African-American	0.30108 56 / 186 Chinese Dai	0.24419 42 / 172 Bengali	0.20213 38 / 188 Colombian
0.17757 38 / 214 Iberian	0.32812 63 / 192 African-Caribbean	0.36408 75 / 206 Han, Beijing	0.22330 46 / 206 Gujarati Indian	0.17969 23 / 128 Mexican, LA
0.14953 32 / 214 Toscani	0.30303 60 / 198 Esan, Nigeria	0.40385 84 / 208 Japanese	0.21078 43 / 204 Indian Telugu	0.25294 43 / 170 Peruvian
0.17172 34 / 198 Utah Europeans	0.33628 76 / 226 Gambian	0.23232 46 / 198 Kinh, Vietnam	0.23958 46 / 192 Punjabi, Lahore	0.16346 34 / 208 Puerto Rican
	0.41414 82 / 198 Luhya, Kenya	0.29524 62 / 210 Southern Han	0.28431 58 / 204 Tamil
	0.25882 44 / 170 Mende
	0.31019 67 / 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
tolerated	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.