SDHA : c.771-11A>G

SDHA gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.771-11A>Gsubstitutionsplice site chr5:230980 (forward strand)0.88103875

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.88103875 (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
ExAC0.88369826
58925 / 66680		0.97364371
10122 / 10396		0.66434702
5728 / 8622		0.90079942
14874 / 16512		0.89496888
10353 / 11568		0.91895978
6078 / 6614		0.87004405
790 / 908		0.88103875
106870 / 121300
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.85767
693 / 808		 0.98790
1306 / 1322		 0.62798
633 / 1008		 0.90286
883 / 978		 0.86888
603 / 694		 0.91414
181 / 198		 0.85843
4299 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.89011
162 / 182
British
0.98361
120 / 122
African-American
0.50000
93 / 186
Chinese Dai
0.91279
157 / 172
Bengali
0.83511
157 / 188
Colombian
0.86449
185 / 214
Iberian
0.98438
189 / 192
African-Caribbean
0.67476
139 / 206
Han, Beijing
0.87379
180 / 206
Gujarati Indian
0.92969
119 / 128
Mexican, LA
0.78037
167 / 214
Toscani
1.00000
198 / 198
Esan, Nigeria
0.66827
139 / 208
Japanese
0.90686
185 / 204
Indian Telugu
0.81765
139 / 170
Peruvian
0.90404
179 / 198
Utah Europeans
0.96903
219 / 226
Gambian
0.60606
120 / 198
Kinh, Vietnam
0.90104
173 / 192
Punjabi, Lahore
0.90385
188 / 208
Puerto Rican
0.98990
196 / 198
Luhya, Kenya
0.67619
142 / 210
Southern Han
0.92157
188 / 204
Tamil
0.99412
169 / 170
Mende
0.99537
215 / 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 ENST00000264932 LRG_315t1NM_004168.2
Protein ENSP00000264932 LRG_315p1P31040



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.