OBSCN : c.16405+6_16405+7insG

OBSCN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.16405+6_16405+7insGinsertionsplice site chr1:228523005-228523006 (forward strand)0.39772727

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.39772727 (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
ExAC0.44736842
442 / 988		0.42857143
42 / 98		0.53125000
34 / 64		0.37568843
955 / 2542		0.37500000
12 / 32		0.00000000
0 / 0		0.33333333
20 / 60		0.39772727
1505 / 3784
ESP 0.42531
763 / 8600		 0.39535
306 / 4400		 0.27002
1069 / 13000
1KG
 0.47525
384 / 808		 0.48714
644 / 1322		 0.57341
578 / 1008		 0.38344
375 / 978		 0.36311
252 / 694		 0.59596
118 / 198		 0.46945
2351 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.49451
90 / 182
British
0.49180
60 / 122
African-American
0.59140
110 / 186
Chinese Dai
0.37209
64 / 172
Bengali
0.32447
61 / 188
Colombian
0.48131
103 / 214
Iberian
0.43750
84 / 192
African-Caribbean
0.50485
104 / 206
Han, Beijing
0.37864
78 / 206
Gujarati Indian
0.36719
47 / 128
Mexican, LA
0.46729
100 / 214
Toscani
0.50505
100 / 198
Esan, Nigeria
0.61058
127 / 208
Japanese
0.38725
79 / 204
Indian Telugu
0.24706
42 / 170
Peruvian
0.45960
91 / 198
Utah Europeans
0.46460
105 / 226
Gambian
0.57576
114 / 198
Kinh, Vietnam
0.38542
74 / 192
Punjabi, Lahore
0.49038
102 / 208
Puerto Rican
0.48990
97 / 198
Luhya, Kenya
0.58571
123 / 210
Southern Han
0.39216
80 / 204
Tamil
0.51176
87 / 170
Mende
0.51389
111 / 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.