MMP9 : c.649+3G>T

MMP9 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.649+3G>Tsubstitutionsplice site chr20:44639692 (forward strand)0.15826922

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.15826922 (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
ExAC0.14232885
9468 / 66522		0.16316904
1695 / 10388		0.13727989
1185 / 8632		0.29481589
4868 / 16512		0.06212200
719 / 11574		0.16162685
1069 / 6614		0.18763797
170 / 906		0.15826922
19174 / 121148
ESP 0.13872
1193 / 8600		 0.16546
729 / 4406		 0.14778
1922 / 13006
1KG
 0.16337
132 / 808		 0.15658
207 / 1322		 0.15675
158 / 1008		 0.34356
336 / 978		 0.08069
56 / 694		 0.21717
43 / 198		 0.18610
932 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.14286
26 / 182
British
0.14754
18 / 122
African-American
0.14516
27 / 186
Chinese Dai
0.31395
54 / 172
Bengali
0.07979
15 / 188
Colombian
0.16822
36 / 214
Iberian
0.16146
31 / 192
African-Caribbean
0.13592
28 / 206
Han, Beijing
0.33495
69 / 206
Gujarati Indian
0.08594
11 / 128
Mexican, LA
0.16355
35 / 214
Toscani
0.15657
31 / 198
Esan, Nigeria
0.17308
36 / 208
Japanese
0.39706
81 / 204
Indian Telugu
0.07059
12 / 170
Peruvian
0.17677
35 / 198
Utah Europeans
0.10619
24 / 226
Gambian
0.16667
33 / 198
Kinh, Vietnam
0.26562
51 / 192
Punjabi, Lahore
0.08654
18 / 208
Puerto Rican
0.17172
34 / 198
Luhya, Kenya
0.16190
34 / 210
Southern Han
0.39706
81 / 204
Tamil
0.15882
27 / 170
Mende
0.19444
42 / 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 ENST00000372330 NM_004994.2
Protein ENSP00000361405 P14780



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.