ANK2 : c.7007T>C

ANK2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.7007T>Cp.V2336A (Val > Ala)substitutionmissense chr4:114276880 (forward strand)0.09796952

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.09796952 (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
ExAC0.11892832
7928 / 66662		0.18167821
1888 / 10392		0.00023213
2 / 8616		0.03513448
580 / 16508		0.05694012
658 / 11556		0.10919540
722 / 6612		0.11147903
101 / 906		0.09796952
11879 / 121252
ESP 0.11628
1000 / 8600		 0.18588
819 / 4406		 0.13986
1819 / 13006
1KG
 0.12624
102 / 808		 0.19516
258 / 1322		 0.00099
1 / 1008		 0.01943
19 / 978		 0.08213
57 / 694		 0.12121
24 / 198		 0.09205
461 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.09341
17 / 182
British
0.22131
27 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.00581
1 / 172
Bengali
0.06383
12 / 188
Colombian
0.15888
34 / 214
Iberian
0.18750
36 / 192
African-Caribbean
0.00485
1 / 206
Han, Beijing
0.01456
3 / 206
Gujarati Indian
0.06250
8 / 128
Mexican, LA
0.11215
24 / 214
Toscani
0.19697
39 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.03922
8 / 204
Indian Telugu
0.05294
9 / 170
Peruvian
0.13636
27 / 198
Utah Europeans
0.20796
47 / 226
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.03646
7 / 192
Punjabi, Lahore
0.13462
28 / 208
Puerto Rican
0.16667
33 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.00000
0 / 204
Tamil
0.23529
40 / 170
Mende
0.16667
36 / 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 ENST00000264366 LRG_327t1
Protein ENSP00000264366 LRG_327p1I6L894

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
0% of algorithms have predicted that this variant will adversely affect protein function
moderately conservative
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) neutral 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.