MZF1 : c.991A>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.991A>G	p.I331V (Ile > Val)	substitution	missense	chr19:59074653 (reverse strand)	0.30638622

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.30638622 (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	0.25857011 12868 / 49766	0.64249601 4829 / 7516	0.16460360 1117 / 6786	0.32800000 4756 / 14500	0.37160940 3288 / 8848	0.28317152 1050 / 3708	0.32389937 206 / 636	0.30638622 28114 / 91760
ESP	0.21427 1841 / 8592	0.61030 2678 / 4388						0.34815 4519 / 12980
1KG	0.27475 222 / 808	0.66490 879 / 1322	0.16766 169 / 1008	0.31084 304 / 978	0.36455 253 / 694	0.21717 43 / 198		0.37340 1870 / 5008

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

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

0.23077 42 / 182 British	0.47541 58 / 122 African-American	0.12366 23 / 186 Chinese Dai	0.36628 63 / 172 Bengali	0.28723 54 / 188 Colombian
0.33645 72 / 214 Iberian	0.63542 122 / 192 African-Caribbean	0.17961 37 / 206 Han, Beijing	0.25728 53 / 206 Gujarati Indian	0.35938 46 / 128 Mexican, LA
0.27570 59 / 214 Toscani	0.66667 132 / 198 Esan, Nigeria	0.19231 40 / 208 Japanese	0.27451 56 / 204 Indian Telugu	0.49412 84 / 170 Peruvian
0.24747 49 / 198 Utah Europeans	0.62832 142 / 226 Gambian	0.20202 40 / 198 Kinh, Vietnam	0.34896 67 / 192 Punjabi, Lahore	0.33173 69 / 208 Puerto Rican
	0.79293 157 / 198 Luhya, Kenya	0.13810 29 / 210 Southern Han	0.31863 65 / 204 Tamil
	0.68235 116 / 170 Mende
	0.70370 152 / 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
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.