MYPN : c.3403C>A

MYPN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.3403C>Ap.P1135T (Pro > Thr)substitutionmissense chr10:69959242 (forward strand)0.43227827

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.43227827 (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
ExAC0.48061527
32058 / 66702		0.25331667
2635 / 10402		0.22508113
1942 / 8628		0.42676278
7045 / 16508		0.41482186
4797 / 11564		0.53737893
3551 / 6608		0.45814978
416 / 908		0.43227827
52444 / 121320
ESP 0.47861
4116 / 8600		 0.26396
1163 / 4406		 0.40589
5279 / 13006
1KG
 0.46906
379 / 808		 0.21634
286 / 1322		 0.23909
241 / 1008		 0.42025
411 / 978		 0.40202
279 / 694		 0.54545
108 / 198		 0.34026
1704 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.47802
87 / 182
British
0.28689
35 / 122
African-American
0.21505
40 / 186
Chinese Dai
0.44767
77 / 172
Bengali
0.44681
84 / 188
Colombian
0.48131
103 / 214
Iberian
0.22396
43 / 192
African-Caribbean
0.22816
47 / 206
Han, Beijing
0.43689
90 / 206
Gujarati Indian
0.46875
60 / 128
Mexican, LA
0.39720
85 / 214
Toscani
0.14141
28 / 198
Esan, Nigeria
0.36058
75 / 208
Japanese
0.41176
84 / 204
Indian Telugu
0.28824
49 / 170
Peruvian
0.52525
104 / 198
Utah Europeans
0.25221
57 / 226
Gambian
0.17172
34 / 198
Kinh, Vietnam
0.37500
72 / 192
Punjabi, Lahore
0.41346
86 / 208
Puerto Rican
0.18687
37 / 198
Luhya, Kenya
0.21429
45 / 210
Southern Han
0.43137
88 / 204
Tamil
0.18824
32 / 170
Mende
0.25000
54 / 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
37.5% of algorithms have predicted that this variant will adversely affect protein function
conservative probably damaging probably damaging
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.