HELZ2 : c.851C>T

HELZ2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.851C>Tp.A284V (Ala > Val)substitutionmissense chr20:62200738 (reverse strand)0.11899233

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.11899233 (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
ExAC0.07463142
4404 / 59010		0.39285714
3575 / 9100		0.01529442
120 / 7846		0.18085809
2740 / 15150		0.15900994
1696 / 10666		0.03955573
203 / 5132		0.09600000
72 / 750		0.11899233
12810 / 107654
ESP 0.07402
636 / 8592		 0.35897
1573 / 4382		 0.17026
2209 / 12974
1KG
 0.07921
64 / 808		 0.42284
559 / 1322		 0.03175
32 / 1008		 0.17178
168 / 978		 0.13689
95 / 694		 0.02020
4 / 198		 0.18411
922 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.08242
15 / 182
British
0.26230
32 / 122
African-American
0.00538
1 / 186
Chinese Dai
0.18023
31 / 172
Bengali
0.14894
28 / 188
Colombian
0.08411
18 / 214
Iberian
0.43750
84 / 192
African-Caribbean
0.03398
7 / 206
Han, Beijing
0.17476
36 / 206
Gujarati Indian
0.12500
16 / 128
Mexican, LA
0.09346
20 / 214
Toscani
0.42929
85 / 198
Esan, Nigeria
0.05769
12 / 208
Japanese
0.17647
36 / 204
Indian Telugu
0.12353
21 / 170
Peruvian
0.05556
11 / 198
Utah Europeans
0.36283
82 / 226
Gambian
0.01515
3 / 198
Kinh, Vietnam
0.16146
31 / 192
Punjabi, Lahore
0.14423
30 / 208
Puerto Rican
0.50505
100 / 198
Luhya, Kenya
0.04286
9 / 210
Southern Han
0.16667
34 / 204
Tamil
0.51765
88 / 170
Mende
0.40741
88 / 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 moderately 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.