MYOM1 : c.541T>C

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.541T>C	p.S181P (Ser > Pro)	substitution	missense	chr18:3188976 (reverse strand)	0.43735299

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.43735299 (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	0.41548768 27723 / 66724	0.19763410 1938 / 9806	0.81963788 7062 / 8616	0.47364914 7819 / 16508	0.40072576 4638 / 11574	0.49213789 3255 / 6614	0.41314031 371 / 898	0.43735299 52806 / 120740
ESP	0.41531 3467 / 8348	0.18684 747 / 3998						0.34132 4214 / 12346
1KG	0.38614 312 / 808	0.16415 217 / 1322	0.83631 843 / 1008	0.48671 476 / 978	0.40202 279 / 694	0.46970 93 / 198		0.44329 2220 / 5008

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

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

0.44505 81 / 182 British	0.26230 32 / 122 African-American	0.82796 154 / 186 Chinese Dai	0.56977 98 / 172 Bengali	0.38298 72 / 188 Colombian
0.38318 82 / 214 Iberian	0.22396 43 / 192 African-Caribbean	0.79126 163 / 206 Han, Beijing	0.49029 101 / 206 Gujarati Indian	0.36719 47 / 128 Mexican, LA
0.31308 67 / 214 Toscani	0.14141 28 / 198 Esan, Nigeria	0.87019 181 / 208 Japanese	0.47549 97 / 204 Indian Telugu	0.52941 90 / 170 Peruvian
0.41414 82 / 198 Utah Europeans	0.10177 23 / 226 Gambian	0.85859 170 / 198 Kinh, Vietnam	0.47917 92 / 192 Punjabi, Lahore	0.33654 70 / 208 Puerto Rican
	0.13636 27 / 198 Luhya, Kenya	0.83333 175 / 210 Southern Han	0.43137 88 / 204 Tamil
	0.18235 31 / 170 Mende
	0.15278 33 / 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 12.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated	moderately conservative	possibly damaging	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.