HELZ2 : c.2363G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.2363G>A	p.S788N (Ser > Asn)	substitution	missense	chr20:62198348 (reverse strand)	0.91453741

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.91453741 (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
ExAC	0.89981359 58891 / 65448	0.90294695 9192 / 10180	0.99941793 8585 / 8590	0.98328083 16232 / 16508	0.93830156 10828 / 11540	0.75696548 4999 / 6604	0.89662921 798 / 890	0.91453741 109525 / 119760
ESP	0.90053 7741 / 8596	0.90331 3980 / 4406						0.90148 11721 / 13002
1KG	0.90594 732 / 808	0.90469 1196 / 1322	0.99901 1007 / 1008	0.98978 968 / 978	0.90922 631 / 694	0.75758 150 / 198		0.93530 4684 / 5008

View sub-population details for 1000 Genomes (1KG) data

Hide sub-population details for 1000 Genomes (1KG) data

0.92857 169 / 182 British	0.86066 105 / 122 African-American	0.99462 185 / 186 Chinese Dai	0.98837 170 / 172 Bengali	0.91489 172 / 188 Colombian
0.91121 195 / 214 Iberian	0.89583 172 / 192 African-Caribbean	1.00000 206 / 206 Han, Beijing	0.98058 202 / 206 Gujarati Indian	0.89844 115 / 128 Mexican, LA
0.89720 192 / 214 Toscani	0.90404 179 / 198 Esan, Nigeria	1.00000 208 / 208 Japanese	0.99020 202 / 204 Indian Telugu	0.97647 166 / 170 Peruvian
0.88889 176 / 198 Utah Europeans	0.89381 202 / 226 Gambian	1.00000 198 / 198 Kinh, Vietnam	0.99479 191 / 192 Punjabi, Lahore	0.85577 178 / 208 Puerto Rican
	0.95960 190 / 198 Luhya, Kenya	1.00000 210 / 210 Southern Han	0.99510 203 / 204 Tamil
	0.92941 158 / 170 Mende
	0.87963 190 / 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 12.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated	conservative	benign	benign
LRT	MutationTaster	MutationAssessor	FATHMM
neutral	polymorphism (auto)	low impact	damaging

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.