OBSCN : c.8434C>T

OBSCN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.8434C>Tp.R2812W (Arg > Trp)substitutionmissense chr1:228469870 (forward strand)0.04840861

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.04840861 (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
ExAC0.02216840
1437 / 64822		0.04664502
431 / 9240		0.28931856
2454 / 8482		0.05235345
852 / 16274		0.00865419
98 / 11324		0.05931635
354 / 5968		0.04206731
35 / 832		0.04840861
5661 / 116942
ESP 0.01785
148 / 8292		 0.04706
187 / 3974		 0.02731
335 / 12266
1KG
 0.01980
16 / 808		 0.04387
58 / 1322		 0.28075
283 / 1008		 0.06339
62 / 978		 0.01297
9 / 694		 0.04545
9 / 198		 0.08726
437 / 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
0.24194
45 / 186
Chinese Dai
0.10465
18 / 172
Bengali
0.01064
2 / 188
Colombian
0.00000
0 / 214
Iberian
0.04688
9 / 192
African-Caribbean
0.28641
59 / 206
Han, Beijing
0.03398
7 / 206
Gujarati Indian
0.00781
1 / 128
Mexican, LA
0.02804
6 / 214
Toscani
0.04545
9 / 198
Esan, Nigeria
0.28846
60 / 208
Japanese
0.07843
16 / 204
Indian Telugu
0.00588
1 / 170
Peruvian
0.02020
4 / 198
Utah Europeans
0.03540
8 / 226
Gambian
0.24242
48 / 198
Kinh, Vietnam
0.05729
11 / 192
Punjabi, Lahore
0.02404
5 / 208
Puerto Rican
0.04545
9 / 198
Luhya, Kenya
0.33810
71 / 210
Southern Han
0.04902
10 / 204
Tamil
0.07059
12 / 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
37.5% of algorithms have predicted that this variant will adversely affect protein function
damaging moderately radical benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) medium impact 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.