OBSCN : c.13546C>T

OBSCN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.13546C>Tp.R4516W (Arg > Trp)substitutionmissense chr1:228504670 (forward strand)0.42304493

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.42304493 (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
ExAC0.50708592
2290 / 4516		0.32547170
276 / 848		0.24615385
64 / 260		0.38161420
2279 / 5972		0.35833333
86 / 240		0.61111111
33 / 54		0.43846154
57 / 130		0.42304493
5085 / 12020
ESP 0.43983
3333 / 7578		 0.24574
923 / 3756		 0.37551
4256 / 11334
1KG
 0.46782
378 / 808		 0.27912
369 / 1322		 0.24901
251 / 1008		 0.27301
267 / 978		 0.40058
278 / 694		 0.56061
111 / 198		 0.33027
1654 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.49451
90 / 182
British
0.28689
35 / 122
African-American
0.29032
54 / 186
Chinese Dai
0.21512
37 / 172
Bengali
0.29255
55 / 188
Colombian
0.47664
102 / 214
Iberian
0.31250
60 / 192
African-Caribbean
0.17476
36 / 206
Han, Beijing
0.31068
64 / 206
Gujarati Indian
0.36719
47 / 128
Mexican, LA
0.45327
97 / 214
Toscani
0.29798
59 / 198
Esan, Nigeria
0.32212
67 / 208
Japanese
0.24510
50 / 204
Indian Telugu
0.44118
75 / 170
Peruvian
0.44949
89 / 198
Utah Europeans
0.23451
53 / 226
Gambian
0.24747
49 / 198
Kinh, Vietnam
0.28646
55 / 192
Punjabi, Lahore
0.48558
101 / 208
Puerto Rican
0.24242
48 / 198
Luhya, Kenya
0.21429
45 / 210
Southern Han
0.29902
61 / 204
Tamil
0.25882
44 / 170
Mende
0.32407
70 / 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 benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral 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.