OBSCN : c.17857-9C>A

OBSCN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.17857-9C>Asubstitutionsplice site chr1:228529129 (forward strand)0.13864465

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.13864465 (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
ExAC0.11008820
6565 / 59634		0.06121963
514 / 8396		0.36195411
2934 / 8106		0.16445279
2278 / 13852		0.11113297
1130 / 10168		0.22240318
1229 / 5526		0.14155844
109 / 770		0.13864465
14759 / 106452
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.07550
61 / 808		 0.04463
59 / 1322		 0.32837
331 / 1008		 0.15133
148 / 978		 0.07205
50 / 694		 0.21717
43 / 198		 0.13818
692 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.08242
15 / 182
British
0.05738
7 / 122
African-American
0.31183
58 / 186
Chinese Dai
0.17442
30 / 172
Bengali
0.08511
16 / 188
Colombian
0.06075
13 / 214
Iberian
0.02604
5 / 192
African-Caribbean
0.33495
69 / 206
Han, Beijing
0.11650
24 / 206
Gujarati Indian
0.10938
14 / 128
Mexican, LA
0.07944
17 / 214
Toscani
0.02020
4 / 198
Esan, Nigeria
0.28846
60 / 208
Japanese
0.22549
46 / 204
Indian Telugu
0.05882
10 / 170
Peruvian
0.08081
16 / 198
Utah Europeans
0.03097
7 / 226
Gambian
0.33333
66 / 198
Kinh, Vietnam
0.14062
27 / 192
Punjabi, Lahore
0.04808
10 / 208
Puerto Rican
0.12626
25 / 198
Luhya, Kenya
0.37143
78 / 210
Southern Han
0.10294
21 / 204
Tamil
0.02353
4 / 170
Mende
0.03241
7 / 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 ENST00000284548 LRG_412t1NM_052843.2
Protein ENSP00000284548 LRG_412p1



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.