MAP2K2 : c.453C>T

MAP2K2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.453C>Tp.D151Dsubstitutionsplice site chr19:4102449 (reverse strand)0.23147149

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.23147149 (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
ExAC0.27567948
10569 / 38338		0.05971198
340 / 5694		0.05254849
233 / 4434		0.25305304
2901 / 11464		0.14676113
580 / 3952		0.30237489
713 / 2358		0.22435897
105 / 468		0.23147149
15441 / 66708
ESP 0.19339
1662 / 8594		 0.04386
193 / 4400		 0.14276
1855 / 12994
1KG
 0.20792
168 / 808		 0.01967
26 / 1322		 0.05258
53 / 1008		 0.20859
204 / 978		 0.09942
69 / 694		 0.18687
37 / 198		 0.11122
557 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.18681
34 / 182
British
0.04098
5 / 122
African-American
0.06989
13 / 186
Chinese Dai
0.19186
33 / 172
Bengali
0.13830
26 / 188
Colombian
0.20561
44 / 214
Iberian
0.02604
5 / 192
African-Caribbean
0.02913
6 / 206
Han, Beijing
0.21845
45 / 206
Gujarati Indian
0.10156
13 / 128
Mexican, LA
0.20561
44 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.07692
16 / 208
Japanese
0.25980
53 / 204
Indian Telugu
0.02941
5 / 170
Peruvian
0.23232
46 / 198
Utah Europeans
0.01770
4 / 226
Gambian
0.05051
10 / 198
Kinh, Vietnam
0.14583
28 / 192
Punjabi, Lahore
0.12019
25 / 208
Puerto Rican
0.02020
4 / 198
Luhya, Kenya
0.03810
8 / 210
Southern Han
0.22059
45 / 204
Tamil
0.00588
1 / 170
Mende
0.03241
7 / 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 ENST00000262948 NM_030662.3
Protein ENSP00000262948 P36507



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.