COL1A1 : c.1300-8C>G

COL1A1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1300-8C>Gsubstitutionsplice site chr17:48272469 (reverse strand)0.01880764

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.01880764 (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
ExAC0.00218499
145 / 66362		0.13480535
1392 / 10326		0.00000000
0 / 8626		0.04011149
662 / 16504		0.00581194
67 / 11528		0.00015244
1 / 6560		0.00558036
5 / 896		0.01880764
2272 / 120802
ESP 0.00128
11 / 8600		 0.14117
622 / 4406		 0.04867
633 / 13006
1KG
 0.00124
1 / 808		 0.18745
224 / 1195		 0.00000
0 / 1008		 0.04517
44 / 974		 0.00578
4 / 692		 0.00505
1 / 198		 0.05621
274 / 4875
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00000
0 / 182
British
0.09735
11 / 113
African-American
0.00000
0 / 186
Chinese Dai
0.01163
2 / 172
Bengali
0.01596
3 / 188
Colombian
0.00467
1 / 214
Iberian
0.14620
25 / 171
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.05825
12 / 206
Gujarati Indian
0.00000
0 / 127
Mexican, LA
0.00000
0 / 214
Toscani
0.22353
38 / 170
Esan, Nigeria
0.00000
0 / 208
Japanese
0.05882
12 / 204
Indian Telugu
0.00000
0 / 170
Peruvian
0.00000
0 / 198
Utah Europeans
0.24638
51 / 207
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.05291
10 / 189
Punjabi, Lahore
0.00483
1 / 207
Puerto Rican
0.21858
40 / 183
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.03941
8 / 203
Tamil
0.15723
25 / 159
Mende
0.17708
34 / 192
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 ENST00000225964 NM_000088.3
Protein ENSP00000225964 P02452



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.