MMP9 : c.997+5C>T

MMP9 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.997+5C>Tsubstitutionsplice site chr20:44640391 (forward strand)0.03330483

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.03330483 (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
ExAC0.00126963
70 / 55134		0.06765304
599 / 8854		0.23284525
1622 / 6966		0.03965287
594 / 14980		0.04264005
376 / 8818		0.01206010
61 / 5058		0.03619303
27 / 746		0.03330483
3349 / 100556
ESP 0.00070
6 / 8600		 0.06582
290 / 4406		 0.02276
296 / 13006
1KG
 0.00124
1 / 808		 0.06884
91 / 1322		 0.19643
198 / 1008		 0.05112
50 / 978		 0.01873
13 / 694		 0.01010
2 / 198		 0.07089
355 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00000
0 / 182
British
0.04098
5 / 122
African-American
0.26882
50 / 186
Chinese Dai
0.08140
14 / 172
Bengali
0.00000
0 / 188
Colombian
0.00467
1 / 214
Iberian
0.07812
15 / 192
African-Caribbean
0.14078
29 / 206
Han, Beijing
0.05340
11 / 206
Gujarati Indian
0.03906
5 / 128
Mexican, LA
0.00000
0 / 214
Toscani
0.09091
18 / 198
Esan, Nigeria
0.22596
47 / 208
Japanese
0.03922
8 / 204
Indian Telugu
0.01176
2 / 170
Peruvian
0.00000
0 / 198
Utah Europeans
0.05310
12 / 226
Gambian
0.15657
31 / 198
Kinh, Vietnam
0.06250
12 / 192
Punjabi, Lahore
0.02885
6 / 208
Puerto Rican
0.02020
4 / 198
Luhya, Kenya
0.19524
41 / 210
Southern Han
0.02451
5 / 204
Tamil
0.08824
15 / 170
Mende
0.10185
22 / 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.