MYPN : c.1178T>C

MYPN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1178T>Cp.V393A (Val > Ala)substitutionmissense chr10:69908157 (forward strand)0.04523660

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.04523660 (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
ExAC0.01550980
1035 / 66732		0.33163559
3451 / 10406		0.00000000
0 / 8646		0.03548934
586 / 16512		0.02706208
313 / 11566		0.01013003
67 / 6614		0.04295154
39 / 908		0.04523660
5491 / 121384
ESP 0.01465
126 / 8600		 0.33227
1464 / 4406		 0.12225
1590 / 13006
1KG
 0.01609
13 / 808		 0.40772
539 / 1322		 0.00000
0 / 1008		 0.01534
15 / 978		 0.04899
34 / 694		 0.01515
3 / 198		 0.12061
604 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.02198
4 / 182
British
0.32787
40 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.01744
3 / 172
Bengali
0.06915
13 / 188
Colombian
0.00467
1 / 214
Iberian
0.31771
61 / 192
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.00971
2 / 206
Gujarati Indian
0.03125
4 / 128
Mexican, LA
0.02804
6 / 214
Toscani
0.46465
92 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.01961
4 / 204
Indian Telugu
0.02941
5 / 170
Peruvian
0.01010
2 / 198
Utah Europeans
0.45133
102 / 226
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.02083
4 / 192
Punjabi, Lahore
0.05769
12 / 208
Puerto Rican
0.45960
91 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.00980
2 / 204
Tamil
0.40588
69 / 170
Mende
0.38889
84 / 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_410t1NM_032578.2
Protein ENSP00000351790 LRG_410p1Q86TC9

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.