MYPN : c.2409C>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.2409C>G	p.S803R (Ser > Arg)	substitution	missense	chr10:69934258 (forward strand)	0.52048775

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.52048775 (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	0.55199400 36818 / 66700	0.45982314 4784 / 10404	0.36471409 3138 / 8604	0.51132647 8442 / 16510	0.45224087 5227 / 11558	0.64088983 4235 / 6608	0.53634361 487 / 908	0.52048775 63131 / 121292
ESP	0.55093 4738 / 8600	0.46845 2064 / 4406						0.52299 6802 / 13006
1KG	0.55446 448 / 808	0.44705 591 / 1322	0.35119 354 / 1008	0.53885 527 / 978	0.45965 319 / 694	0.61616 122 / 198		0.47145 2361 / 5008

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

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

0.52198 95 / 182 British	0.36066 44 / 122 African-American	0.40323 75 / 186 Chinese Dai	0.55814 96 / 172 Bengali	0.53191 100 / 188 Colombian
0.57477 123 / 214 Iberian	0.42708 82 / 192 African-Caribbean	0.31553 65 / 206 Han, Beijing	0.57282 118 / 206 Gujarati Indian	0.49219 63 / 128 Mexican, LA
0.50467 108 / 214 Toscani	0.35859 71 / 198 Esan, Nigeria	0.35096 73 / 208 Japanese	0.54902 112 / 204 Indian Telugu	0.31176 53 / 170 Peruvian
0.61616 122 / 198 Utah Europeans	0.50000 113 / 226 Gambian	0.33333 66 / 198 Kinh, Vietnam	0.44792 86 / 192 Punjabi, Lahore	0.49519 103 / 208 Puerto Rican
	0.57071 113 / 198 Luhya, Kenya	0.35714 75 / 210 Southern Han	0.56373 115 / 204 Tamil
	0.45882 78 / 170 Mende
	0.41667 90 / 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	ENST00000358913	LRG_410t1	NM_032578.2
Protein	ENSP00000351790	LRG_410p1		Q86TC9

Missense Variant Predictions
SIFT	Grantham	Polyphen-DIV	Polyphen-VAR	Summary 37.5% of algorithms have predicted that this variant will adversely affect protein function
	moderately radical	possibly damaging	benign
LRT	MutationTaster	MutationAssessor	FATHMM
deleterious	polymorphism (auto)	low impact	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.