MYPN : c.2072G>A

MYPN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2072G>Ap.S691N (Ser > Asn)substitutionmissense chr10:69933921 (forward strand)0.43076860

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.43076860 (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
ExAC0.48013126
32043 / 66738		0.20920623
2177 / 10406		0.25856481
2234 / 8640		0.42562084
7027 / 16510		0.41670987
4823 / 11574		0.54021772
3573 / 6614		0.45594714
414 / 908		0.43076860
52291 / 121390
ESP 0.48000
4128 / 8600		 0.22152
976 / 4406		 0.39243
5104 / 13006
1KG
 0.47030
380 / 808		 0.17625
233 / 1322		 0.26488
267 / 1008		 0.42331
414 / 978		 0.40346
280 / 694		 0.54545
108 / 198		 0.33586
1682 / 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
0.21505
40 / 186
Chinese Dai
0.45349
78 / 172
Bengali
0.45213
85 / 188
Colombian
0.48598
104 / 214
Iberian
0.14062
27 / 192
African-Caribbean
0.23301
48 / 206
Han, Beijing
0.43204
89 / 206
Gujarati Indian
0.45312
58 / 128
Mexican, LA
0.39720
85 / 214
Toscani
0.13131
26 / 198
Esan, Nigeria
0.43750
91 / 208
Japanese
0.42157
86 / 204
Indian Telugu
0.30000
51 / 170
Peruvian
0.53030
105 / 198
Utah Europeans
0.21239
48 / 226
Gambian
0.20202
40 / 198
Kinh, Vietnam
0.38542
74 / 192
Punjabi, Lahore
0.41346
86 / 208
Puerto Rican
0.25758
51 / 198
Luhya, Kenya
0.22857
48 / 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) 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.