NOS3 : c.3106+11G>T

NOS3 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.3106+11G>Tsubstitutionsplice site chr7:150709571 (forward strand)0.37790170

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.37790170 (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
ExAC0.34504554
21290 / 61702		0.21254661
1938 / 9118		0.38628972
3088 / 7994		0.43220904
6484 / 15002		0.61787488
6222 / 10070		0.41693462
2334 / 5598		0.40075377
319 / 796		0.37790170
41675 / 110280
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.32797
265 / 808		 0.19365
256 / 1322		 0.41171
415 / 1008		 0.43865
429 / 978		 0.51873
360 / 694		 0.43939
87 / 198		 0.36182
1812 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.37363
68 / 182
British
0.26230
32 / 122
African-American
0.33333
62 / 186
Chinese Dai
0.43605
75 / 172
Bengali
0.41489
78 / 188
Colombian
0.32243
69 / 214
Iberian
0.23958
46 / 192
African-Caribbean
0.42233
87 / 206
Han, Beijing
0.38350
79 / 206
Gujarati Indian
0.60156
77 / 128
Mexican, LA
0.23832
51 / 214
Toscani
0.13636
27 / 198
Esan, Nigeria
0.48077
100 / 208
Japanese
0.45588
93 / 204
Indian Telugu
0.69412
118 / 170
Peruvian
0.38889
77 / 198
Utah Europeans
0.25664
58 / 226
Gambian
0.38889
77 / 198
Kinh, Vietnam
0.43750
84 / 192
Punjabi, Lahore
0.41827
87 / 208
Puerto Rican
0.13131
26 / 198
Luhya, Kenya
0.42381
89 / 210
Southern Han
0.48039
98 / 204
Tamil
0.20588
35 / 170
Mende
0.14815
32 / 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 ENST00000297494 NM_000603.4
Protein ENSP00000297494 P29474



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.