OBSCN : c.10117A>T

OBSCN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.10117A>Tp.S3373C (Ser > Cys)substitutionmissense chr1:228476367 (forward strand)0.05143013

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.05143013 (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
ExAC0.02244109
1497 / 66708		0.05430788
532 / 9796		0.33717680
2895 / 8586		0.04705669
777 / 16512		0.00872947
101 / 11570		0.05579075
369 / 6614		0.03991131
36 / 902		0.05143013
6207 / 120688
ESP 0.01416
119 / 8404		 0.04426
182 / 4112		 0.02405
301 / 12516
1KG
 0.02104
17 / 808		 0.05144
68 / 1322		 0.31647
319 / 1008		 0.05828
57 / 978		 0.01441
10 / 694		 0.04545
9 / 198		 0.09585
480 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.03297
6 / 182
British
0.02459
3 / 122
African-American
0.27419
51 / 186
Chinese Dai
0.09884
17 / 172
Bengali
0.01064
2 / 188
Colombian
0.00000
0 / 214
Iberian
0.06771
13 / 192
African-Caribbean
0.33981
70 / 206
Han, Beijing
0.03398
7 / 206
Gujarati Indian
0.00781
1 / 128
Mexican, LA
0.02804
6 / 214
Toscani
0.05556
11 / 198
Esan, Nigeria
0.28365
59 / 208
Japanese
0.07843
16 / 204
Indian Telugu
0.00588
1 / 170
Peruvian
0.02525
5 / 198
Utah Europeans
0.03982
9 / 226
Gambian
0.30808
61 / 198
Kinh, Vietnam
0.05729
11 / 192
Punjabi, Lahore
0.02885
6 / 208
Puerto Rican
0.05051
10 / 198
Luhya, Kenya
0.37143
78 / 210
Southern Han
0.02941
6 / 204
Tamil
0.08235
14 / 170
Mende
0.03704
8 / 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
12.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated moderately radical
LRT MutationTaster MutationAssessor FATHMM
unknown 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.