HELZ2 : c.6529+11T>C

HELZ2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.6529+11T>Csubstitutionsplice site chr20:62193414 (reverse strand)0.87979252

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.87979252 (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
ExAC0.84600450
51855 / 61294		0.90962740
7861 / 8642		0.99713740
8360 / 8384		0.97675450
15421 / 15788		0.91631243
10347 / 11292		0.69736842
4187 / 6004		0.85660848
687 / 802		0.87979252
98718 / 112206
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.84901
686 / 808		 0.91906
1215 / 1322		 0.99901
1007 / 1008		 0.97751
956 / 978		 0.87752
609 / 694		 0.67677
134 / 198		 0.91993
4607 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.87363
159 / 182
British
0.91803
112 / 122
African-American
0.99462
185 / 186
Chinese Dai
0.96512
166 / 172
Bengali
0.88830
167 / 188
Colombian
0.83178
178 / 214
Iberian
0.89062
171 / 192
African-Caribbean
1.00000
206 / 206
Han, Beijing
0.97087
200 / 206
Gujarati Indian
0.88281
113 / 128
Mexican, LA
0.85047
182 / 214
Toscani
0.89394
177 / 198
Esan, Nigeria
1.00000
208 / 208
Japanese
0.98529
201 / 204
Indian Telugu
0.97059
165 / 170
Peruvian
0.84343
167 / 198
Utah Europeans
0.92920
210 / 226
Gambian
1.00000
198 / 198
Kinh, Vietnam
0.97917
188 / 192
Punjabi, Lahore
0.78846
164 / 208
Puerto Rican
0.93434
185 / 198
Luhya, Kenya
1.00000
210 / 210
Southern Han
0.98529
201 / 204
Tamil
0.95882
163 / 170
Mende
0.91204
197 / 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



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.