MZF1 : c.152G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.152G>A	p.R51H (Arg > His)	substitution	missense	chr19:59082605 (reverse strand)	0.25720153

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.25720153 (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	0.27874850 16687 / 59864	0.09185008 843 / 9178	0.31062203 2357 / 7588	0.20361537 3244 / 15932	0.27413052 2806 / 10236	0.34186595 2030 / 5938	0.25728155 212 / 824	0.25720153 28179 / 109560
ESP	0.28286 2432 / 8598	0.09328 411 / 4406						0.21862 2843 / 13004
1KG	0.25248 204 / 808	0.06884 91 / 1322	0.29960 302 / 1008	0.20757 203 / 978	0.23775 165 / 694	0.36364 72 / 198		0.20707 1037 / 5008

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

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

0.29121 53 / 182 British	0.17213 21 / 122 African-American	0.31183 58 / 186 Chinese Dai	0.16860 29 / 172 Bengali	0.29787 56 / 188 Colombian
0.19626 42 / 214 Iberian	0.09375 18 / 192 African-Caribbean	0.26214 54 / 206 Han, Beijing	0.18932 39 / 206 Gujarati Indian	0.23438 30 / 128 Mexican, LA
0.24299 52 / 214 Toscani	0.04545 9 / 198 Esan, Nigeria	0.27885 58 / 208 Japanese	0.29902 61 / 204 Indian Telugu	0.22941 39 / 170 Peruvian
0.28788 57 / 198 Utah Europeans	0.07522 17 / 226 Gambian	0.31313 62 / 198 Kinh, Vietnam	0.16146 31 / 192 Punjabi, Lahore	0.19231 40 / 208 Puerto Rican
	0.02020 4 / 198 Luhya, Kenya	0.33333 70 / 210 Southern Han	0.21078 43 / 204 Tamil
	0.04706 8 / 170 Mende
	0.06481 14 / 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	ENST00000215057		NM_001267033.1
Protein	ENSP00000215057			P28698

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