MYPN : c.2120G>A

MYPN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2120G>Ap.S707N (Ser > Asn)substitutionmissense chr10:69933969 (forward strand)0.42584110

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.42584110 (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
ExAC0.47947073
31997 / 66734		0.20920623
2177 / 10406		0.20414064
1765 / 8646		0.42362205
6994 / 16510		0.41410301
4792 / 11572		0.53796128
3557 / 6612		0.45154185
410 / 908		0.42584110
51692 / 121388
ESP 0.47977
4126 / 8600		 0.22174
977 / 4406		 0.39236
5103 / 13006
1KG
 0.47030
380 / 808		 0.17625
233 / 1322		 0.21627
218 / 1008		 0.41820
409 / 978		 0.40346
280 / 694		 0.54545
108 / 198		 0.32508
1628 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.47253
86 / 182
British
0.18852
23 / 122
African-American
0.19892
37 / 186
Chinese Dai
0.44767
77 / 172
Bengali
0.45213
85 / 188
Colombian
0.48598
104 / 214
Iberian
0.14062
27 / 192
African-Caribbean
0.16990
35 / 206
Han, Beijing
0.42233
87 / 206
Gujarati Indian
0.44531
57 / 128
Mexican, LA
0.39720
85 / 214
Toscani
0.13131
26 / 198
Esan, Nigeria
0.35096
73 / 208
Japanese
0.41176
84 / 204
Indian Telugu
0.30588
52 / 170
Peruvian
0.53030
105 / 198
Utah Europeans
0.21239
48 / 226
Gambian
0.16162
32 / 198
Kinh, Vietnam
0.38542
74 / 192
Punjabi, Lahore
0.41346
86 / 208
Puerto Rican
0.25758
51 / 198
Luhya, Kenya
0.19524
41 / 210
Southern Han
0.42647
87 / 204
Tamil
0.12941
22 / 170
Mende
0.16667
36 / 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
conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral 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.