MYPN : c.1884C>G

MYPN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1884C>Gp.F628L (Phe > Leu)substitutionmissense chr10:69926334 (forward strand)0.43825296

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.43825296 (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
ExAC0.50381244
33566 / 66624		0.16217257
1684 / 10384		0.20099861
1731 / 8612		0.43387879
7159 / 16500		0.42368922
4897 / 11558		0.55342010
3657 / 6608		0.46230599
417 / 902		0.43825296
53111 / 121188
ESP 0.50953
4382 / 8600		 0.17431
768 / 4406		 0.39597
5150 / 13006
1KG
 0.49876
403 / 808		 0.11044
146 / 1322		 0.21627
218 / 1008		 0.43661
427 / 978		 0.40490
281 / 694		 0.55556
110 / 198		 0.31649
1585 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.51099
93 / 182
British
0.13934
17 / 122
African-American
0.19892
37 / 186
Chinese Dai
0.45930
79 / 172
Bengali
0.47340
89 / 188
Colombian
0.50000
107 / 214
Iberian
0.11979
23 / 192
African-Caribbean
0.17961
37 / 206
Han, Beijing
0.43689
90 / 206
Gujarati Indian
0.46875
60 / 128
Mexican, LA
0.40654
87 / 214
Toscani
0.06061
12 / 198
Esan, Nigeria
0.34135
71 / 208
Japanese
0.44608
91 / 204
Indian Telugu
0.29412
50 / 170
Peruvian
0.58586
116 / 198
Utah Europeans
0.13274
30 / 226
Gambian
0.16667
33 / 198
Kinh, Vietnam
0.40104
77 / 192
Punjabi, Lahore
0.39423
82 / 208
Puerto Rican
0.14646
29 / 198
Luhya, Kenya
0.19048
40 / 210
Southern Han
0.44118
90 / 204
Tamil
0.09412
16 / 170
Mende
0.08796
19 / 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
12.5% of algorithms have predicted that this variant will adversely affect protein function
conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
deleterious 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.