SDHA : c.619A>C

SDHA gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.619A>Cp.R207Rsubstitutionsplice site chr5:226160 (forward strand)0.15683068

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.15683068 (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
ExAC0.12788739
8504 / 66496		0.53775766
5583 / 10382		0.06223970
538 / 8644		0.09018776
1489 / 16510		0.18606061
2149 / 11550		0.09169445
605 / 6598		0.13465784
122 / 906		0.15683068
18990 / 121086
ESP 0.13593
1169 / 8600		 0.53450
2355 / 4406		 0.27095
3524 / 13006
1KG
 0.12005
97 / 808		 0.62330
824 / 1322		 0.05853
59 / 1008		 0.07873
77 / 978		 0.24063
167 / 694		 0.07576
15 / 198		 0.24740
1239 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.13187
24 / 182
British
0.59016
72 / 122
African-American
0.04839
9 / 186
Chinese Dai
0.11628
20 / 172
Bengali
0.22340
42 / 188
Colombian
0.14486
31 / 214
Iberian
0.57812
111 / 192
African-Caribbean
0.06311
13 / 206
Han, Beijing
0.05825
12 / 206
Gujarati Indian
0.21875
28 / 128
Mexican, LA
0.09346
20 / 214
Toscani
0.58081
115 / 198
Esan, Nigeria
0.02885
6 / 208
Japanese
0.05392
11 / 204
Indian Telugu
0.20588
35 / 170
Peruvian
0.11111
22 / 198
Utah Europeans
0.73894
167 / 226
Gambian
0.10101
20 / 198
Kinh, Vietnam
0.10417
20 / 192
Punjabi, Lahore
0.29808
62 / 208
Puerto Rican
0.56566
112 / 198
Luhya, Kenya
0.05238
11 / 210
Southern Han
0.06863
14 / 204
Tamil
0.72353
123 / 170
Mende
0.57407
124 / 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.