OBSCN : c.8737+10G>T

OBSCN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.8737+10G>Tsubstitutionsplice site chr1:228470995 (forward strand)0.34532143

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.34532143 (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
ExAC0.37087447
5259 / 14180		0.44365139
1181 / 2662		0.30272727
333 / 1100		0.25344740
1985 / 7832		0.37478705
440 / 1174		0.48414634
397 / 820		0.31896552
74 / 232		0.34532143
9669 / 28000
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.27351
221 / 808		 0.46747
618 / 1322		 0.24901
251 / 1008		 0.20245
198 / 978		 0.33285
231 / 694		 0.37374
74 / 198		 0.31809
1593 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.28022
51 / 182
British
0.40984
50 / 122
African-American
0.29032
54 / 186
Chinese Dai
0.17442
30 / 172
Bengali
0.24468
46 / 188
Colombian
0.30374
65 / 214
Iberian
0.40625
78 / 192
African-Caribbean
0.17476
36 / 206
Han, Beijing
0.20874
43 / 206
Gujarati Indian
0.28125
36 / 128
Mexican, LA
0.24766
53 / 214
Toscani
0.51515
102 / 198
Esan, Nigeria
0.33173
69 / 208
Japanese
0.20588
42 / 204
Indian Telugu
0.40588
69 / 170
Peruvian
0.26263
52 / 198
Utah Europeans
0.50442
114 / 226
Gambian
0.24747
49 / 198
Kinh, Vietnam
0.19792
38 / 192
Punjabi, Lahore
0.38462
80 / 208
Puerto Rican
0.37374
74 / 198
Luhya, Kenya
0.20476
43 / 210
Southern Han
0.22059
45 / 204
Tamil
0.51176
87 / 170
Mende
0.52315
113 / 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.