OBSCN : c.5416+8G>A

OBSCN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.5416+8G>Asubstitutionsplice site chr1:228461757 (forward strand)0.20523323

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.20523323 (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
ExAC0.18969168
11825 / 62338		0.33418085
3023 / 9046		0.15257440
1292 / 8468		0.13506204
1698 / 12572		0.32712861
3673 / 11228		0.16514406
940 / 5692		0.19210526
146 / 760		0.20523323
22597 / 110104
ESP 0.17741
1486 / 8376		 0.30010
1252 / 4172		 0.21820
2738 / 12548
1KG
 0.16213
131 / 808		 0.32073
424 / 1322		 0.15377
155 / 1008		 0.11759
115 / 978		 0.25360
176 / 694		 0.17172
34 / 198		 0.20667
1035 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.15934
29 / 182
British
0.33607
41 / 122
African-American
0.15591
29 / 186
Chinese Dai
0.12791
22 / 172
Bengali
0.25532
48 / 188
Colombian
0.17290
37 / 214
Iberian
0.29688
57 / 192
African-Caribbean
0.13107
27 / 206
Han, Beijing
0.10680
22 / 206
Gujarati Indian
0.26562
34 / 128
Mexican, LA
0.15421
33 / 214
Toscani
0.31818
63 / 198
Esan, Nigeria
0.16346
34 / 208
Japanese
0.07843
16 / 204
Indian Telugu
0.28235
48 / 170
Peruvian
0.16162
32 / 198
Utah Europeans
0.41593
94 / 226
Gambian
0.17677
35 / 198
Kinh, Vietnam
0.14062
27 / 192
Punjabi, Lahore
0.22115
46 / 208
Puerto Rican
0.27273
54 / 198
Luhya, Kenya
0.14286
30 / 210
Southern Han
0.13725
28 / 204
Tamil
0.35882
61 / 170
Mende
0.25000
54 / 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.