SDHA : c.1969G>A

SDHA gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1969G>Ap.V657I (Val > Ile)substitutionmissense chr5:256509 (forward strand)0.12978850

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.12978850 (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
ExAC0.12050397
8034 / 66670		0.30866705
3191 / 10338		0.06135891
531 / 8654		0.08634270
1425 / 16504		0.16094941
1858 / 11544		0.08971256
593 / 6610		0.11233480
102 / 908		0.12978850
15734 / 121228
ESP 0.12988
1117 / 8600		 0.32637
1438 / 4406		 0.19645
2555 / 13006
1KG
 0.11386
92 / 808		 0.37443
495 / 1322		 0.05853
59 / 1008		 0.07669
75 / 978		 0.20461
142 / 694		 0.07576
15 / 198		 0.17532
878 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.13736
25 / 182
British
0.40984
50 / 122
African-American
0.04839
9 / 186
Chinese Dai
0.11047
19 / 172
Bengali
0.19149
36 / 188
Colombian
0.12150
26 / 214
Iberian
0.39583
76 / 192
African-Caribbean
0.06311
13 / 206
Han, Beijing
0.05825
12 / 206
Gujarati Indian
0.20312
26 / 128
Mexican, LA
0.08879
19 / 214
Toscani
0.37374
74 / 198
Esan, Nigeria
0.02885
6 / 208
Japanese
0.05392
11 / 204
Indian Telugu
0.18824
32 / 170
Peruvian
0.11111
22 / 198
Utah Europeans
0.41150
93 / 226
Gambian
0.10101
20 / 198
Kinh, Vietnam
0.10417
20 / 192
Punjabi, Lahore
0.23077
48 / 208
Puerto Rican
0.31818
63 / 198
Luhya, Kenya
0.05238
11 / 210
Southern Han
0.06373
13 / 204
Tamil
0.34118
58 / 170
Mende
0.37500
81 / 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

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
0% of algorithms have predicted that this variant will adversely affect protein function
tolerated conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
unknown 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.