OBSCN : c.7586G>A

OBSCN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.7586G>Ap.R2529Q (Arg > Gln)substitutionmissense chr1:228467711 (forward strand)0.07466675

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.07466675 (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
ExAC0.03703375
1251 / 33780		0.03011568
151 / 5014		0.41405365
2192 / 5294		0.06133964
674 / 10988		0.01666667
61 / 3660		0.09667360
279 / 2886		0.06072874
30 / 494		0.07466675
4638 / 62116
ESP 0.01837
155 / 8438		 0.01831
77 / 4206		 0.01835
232 / 12644
1KG
 0.02104
17 / 808		 0.01664
22 / 1322		 0.30556
308 / 1008		 0.05624
55 / 978		 0.01153
8 / 694		 0.04545
9 / 198		 0.08367
419 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.03297
6 / 182
British
0.00820
1 / 122
African-American
0.25269
47 / 186
Chinese Dai
0.08721
15 / 172
Bengali
0.01064
2 / 188
Colombian
0.00000
0 / 214
Iberian
0.01562
3 / 192
African-Caribbean
0.32039
66 / 206
Han, Beijing
0.03398
7 / 206
Gujarati Indian
0.00781
1 / 128
Mexican, LA
0.02804
6 / 214
Toscani
0.01010
2 / 198
Esan, Nigeria
0.29327
61 / 208
Japanese
0.07843
16 / 204
Indian Telugu
0.00588
1 / 170
Peruvian
0.02525
5 / 198
Utah Europeans
0.01770
4 / 226
Gambian
0.29798
59 / 198
Kinh, Vietnam
0.05729
11 / 192
Punjabi, Lahore
0.01923
4 / 208
Puerto Rican
0.02020
4 / 198
Luhya, Kenya
0.35714
75 / 210
Southern Han
0.02941
6 / 204
Tamil
0.01765
3 / 170
Mende
0.02315
5 / 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 conservative
LRT MutationTaster MutationAssessor FATHMM
deleterious polymorphism (auto) low 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.