MMP9 : c.1174+7G>A

MMP9 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1174+7G>Asubstitutionsplice site chr20:44640959 (forward strand)0.43607566

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.43607566 (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
ExAC0.57528811
37839 / 65774		0.25760417
2473 / 9600		0.00248521
21 / 8450		0.32416515
5339 / 16470		0.23921364
2750 / 11496		0.48510185
3191 / 6578		0.44097996
396 / 898		0.43607566
52009 / 119266
ESP 0.57922
4979 / 8596		 0.26124
1151 / 4406		 0.47147
6130 / 13002
1KG
 0.56312
455 / 808		 0.19289
255 / 1322		 0.00099
1 / 1008		 0.27505
269 / 978		 0.33573
233 / 694		 0.46465
92 / 198		 0.26058
1305 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.61538
112 / 182
British
0.16393
20 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.24419
42 / 172
Bengali
0.42553
80 / 188
Colombian
0.54673
117 / 214
Iberian
0.22396
43 / 192
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.29126
60 / 206
Gujarati Indian
0.21094
27 / 128
Mexican, LA
0.54206
116 / 214
Toscani
0.12121
24 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.25980
53 / 204
Indian Telugu
0.10588
18 / 170
Peruvian
0.55556
110 / 198
Utah Europeans
0.29204
66 / 226
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.34375
66 / 192
Punjabi, Lahore
0.51923
108 / 208
Puerto Rican
0.15657
31 / 198
Luhya, Kenya
0.00476
1 / 210
Southern Han
0.23529
48 / 204
Tamil
0.22941
39 / 170
Mende
0.14815
32 / 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.