COL11A1 : c.275-7T>C

COL11A1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.275-7T>Csubstitutionsplice site chr1:103544434 (reverse strand)0.17001415

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.17001415 (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
ExAC0.19323955
8901 / 46062		0.11502525
911 / 7920		0.00835946
48 / 5742		0.11073340
1531 / 13826		0.26780264
2106 / 7864		0.22682482
1243 / 5480		0.21525886
158 / 734		0.17001415
14898 / 87628
ESP 0.15071
1291 / 8566		 0.09361
404 / 4316		 0.13158
1695 / 12882
1KG
 0.13985
113 / 808		 0.09531
126 / 1322		 0.00099
1 / 1008		 0.08487
83 / 978		 0.18444
128 / 694		 0.19192
38 / 198		 0.09764
489 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.14286
26 / 182
British
0.08197
10 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.09884
17 / 172
Bengali
0.18085
34 / 188
Colombian
0.16355
35 / 214
Iberian
0.09375
18 / 192
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.06796
14 / 206
Gujarati Indian
0.20312
26 / 128
Mexican, LA
0.12617
27 / 214
Toscani
0.09596
19 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.08824
18 / 204
Indian Telugu
0.29412
50 / 170
Peruvian
0.12626
25 / 198
Utah Europeans
0.11504
26 / 226
Gambian
0.00505
1 / 198
Kinh, Vietnam
0.05208
10 / 192
Punjabi, Lahore
0.08654
18 / 208
Puerto Rican
0.08586
17 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.11765
24 / 204
Tamil
0.08235
14 / 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 ENST00000370096 NM_001854.3
Protein ENSP00000359114 P12107



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.