OBSCN : c.19604G>A

OBSCN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.19604G>Ap.R6535H (Arg > His)substitutionmissense chr1:228548197 (forward strand)0.13112623

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.13112623 (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
ExAC0.09956283
5557 / 55814		0.10108806
799 / 7904		0.35906693
2586 / 7202		0.14891120
2284 / 15338		0.10335253
1005 / 9724		0.19428571
1088 / 5600		0.13259669
96 / 724		0.13112623
13415 / 102306
ESP 0.08569
710 / 8286		 0.09867
386 / 3912		 0.08985
1096 / 12198
1KG
 0.07054
57 / 808		 0.08321
110 / 1322		 0.32837
331 / 1008		 0.15031
147 / 978		 0.07637
53 / 694		 0.21212
42 / 198		 0.14776
740 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.06593
12 / 182
British
0.07377
9 / 122
African-American
0.31183
58 / 186
Chinese Dai
0.17442
30 / 172
Bengali
0.08511
16 / 188
Colombian
0.06075
13 / 214
Iberian
0.06771
13 / 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
0.07071
14 / 198
Esan, Nigeria
0.28846
60 / 208
Japanese
0.22549
46 / 204
Indian Telugu
0.05882
10 / 170
Peruvian
0.07576
15 / 198
Utah Europeans
0.07080
16 / 226
Gambian
0.33333
66 / 198
Kinh, Vietnam
0.13542
26 / 192
Punjabi, Lahore
0.06250
13 / 208
Puerto Rican
0.14141
28 / 198
Luhya, Kenya
0.37143
78 / 210
Southern Han
0.10294
21 / 204
Tamil
0.08235
14 / 170
Mende
0.07407
16 / 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

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
0% of algorithms have predicted that this variant will adversely affect protein function
tolerated conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
polymorphism (auto) neutral tolerated


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.