COL11A1 : c.2043+8G>A

COL11A1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2043+8G>Asubstitutionsplice site chr1:103468295 (reverse strand)0.03003881

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.03003881 (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
ExAC0.02340445
1560 / 66654		0.09945451
1021 / 10266		0.00474647
41 / 8638		0.01914223
316 / 16508		0.03305570
381 / 11526		0.04160363
275 / 6610		0.04845815
44 / 908		0.03003881
3638 / 121110
ESP 0.02314
199 / 8600		 0.09510
419 / 4406		 0.04752
618 / 13006
1KG
 0.02599
21 / 808		 0.11271
149 / 1322		 0.00099
1 / 1008		 0.01840
18 / 978		 0.01873
13 / 694		 0.01515
3 / 198		 0.04093
205 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.02747
5 / 182
British
0.06557
8 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.01163
2 / 172
Bengali
0.02660
5 / 188
Colombian
0.05140
11 / 214
Iberian
0.10417
20 / 192
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.01456
3 / 206
Gujarati Indian
0.00781
1 / 128
Mexican, LA
0.01402
3 / 214
Toscani
0.12626
25 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.01471
3 / 204
Indian Telugu
0.00588
1 / 170
Peruvian
0.01010
2 / 198
Utah Europeans
0.16814
38 / 226
Gambian
0.00505
1 / 198
Kinh, Vietnam
0.00000
0 / 192
Punjabi, Lahore
0.02885
6 / 208
Puerto Rican
0.07071
14 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.04902
10 / 204
Tamil
0.10588
18 / 170
Mende
0.12037
26 / 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.