HELZ2 : c.4142G>A

HELZ2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.4142G>Ap.R1381K (Arg > Lys)substitutionmissense chr20:62196033 (reverse strand)0.29954855

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.29954855 (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
ExAC0.28016910
8019 / 28622		0.06922258
260 / 3756		0.58803301
2565 / 4362		0.33151627
3953 / 11924		0.21244209
642 / 3022		0.32403651
639 / 1972		0.28717949
112 / 390		0.29954855
16190 / 54048
ESP 0.18651
1595 / 8552		 0.04391
191 / 4350		 0.13843
1786 / 12902
1KG
 0.19431
157 / 808		 0.00756
10 / 1322		 0.53175
536 / 1008		 0.29346
287 / 978		 0.09942
69 / 694		 0.20202
40 / 198		 0.21945
1099 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.19780
36 / 182
British
0.04098
5 / 122
African-American
0.45161
84 / 186
Chinese Dai
0.33140
57 / 172
Bengali
0.14894
28 / 188
Colombian
0.14486
31 / 214
Iberian
0.02083
4 / 192
African-Caribbean
0.54369
112 / 206
Han, Beijing
0.22816
47 / 206
Gujarati Indian
0.10156
13 / 128
Mexican, LA
0.20093
43 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.59135
123 / 208
Japanese
0.30882
63 / 204
Indian Telugu
0.04706
8 / 170
Peruvian
0.23737
47 / 198
Utah Europeans
0.00000
0 / 226
Gambian
0.54040
107 / 198
Kinh, Vietnam
0.30208
58 / 192
Punjabi, Lahore
0.09615
20 / 208
Puerto Rican
0.00505
1 / 198
Luhya, Kenya
0.52381
110 / 210
Southern Han
0.30392
62 / 204
Tamil
0.00000
0 / 170
Mende
0.00000
0 / 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 ENST00000467148 NM_001037335.2
Protein ENSP00000417401 Q9BYK8

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
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.