SRI : c.136-5A>G

SRI gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.136-5A>Gsubstitutionsplice site chr7:87846511 (reverse strand)0.01787775

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.01787775 (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
ExAC0.00617673
412 / 66702		0.05618736
583 / 10376		0.00970874
84 / 8652		0.05913718
976 / 16504		0.00847165
98 / 11568		0.00045358
3 / 6614		0.01431718
13 / 908		0.01787775
2169 / 121324
ESP 0.00686
59 / 8600		 0.05152
227 / 4406		 0.02199
286 / 13006
1KG
 0.00495
4 / 808		 0.06884
91 / 1322		 0.01290
13 / 1008		 0.06851
67 / 978		 0.01441
10 / 694		 0.00000
0 / 198		 0.03694
185 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00000
0 / 182
British
0.07377
9 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.05814
10 / 172
Bengali
0.00000
0 / 188
Colombian
0.00467
1 / 214
Iberian
0.06250
12 / 192
African-Caribbean
0.03883
8 / 206
Han, Beijing
0.06311
13 / 206
Gujarati Indian
0.02344
3 / 128
Mexican, LA
0.00935
2 / 214
Toscani
0.06566
13 / 198
Esan, Nigeria
0.00481
1 / 208
Japanese
0.07843
16 / 204
Indian Telugu
0.00000
0 / 170
Peruvian
0.00505
1 / 198
Utah Europeans
0.05310
12 / 226
Gambian
0.01515
3 / 198
Kinh, Vietnam
0.06771
13 / 192
Punjabi, Lahore
0.03365
7 / 208
Puerto Rican
0.07576
15 / 198
Luhya, Kenya
0.00476
1 / 210
Southern Han
0.07353
15 / 204
Tamil
0.07647
13 / 170
Mende
0.07870
17 / 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 ENST00000265729 LRG_414t1NM_003130.2
Protein ENSP00000265729 LRG_414p1P30626



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.