FHOD3 : c.3451G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.3451G>A	p.V1151I (Val > Ile)	substitution	missense	chr18:34324091 (forward strand)	0.34153078

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.34153078 (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	0.30542226 20368 / 66688	0.41480554 4309 / 10388	0.30129840 2599 / 8626	0.44500303 7347 / 16510	0.40845436 4725 / 11568	0.26482154 1751 / 6612	0.36203091 328 / 906	0.34153078 41427 / 121298
ESP	0.32628 2806 / 8600	0.41239 1817 / 4406						0.35545 4623 / 13006
1KG	0.31188 252 / 808	0.40998 542 / 1322	0.32044 323 / 1008	0.45297 443 / 978	0.38905 270 / 694	0.27273 54 / 198		0.37620 1884 / 5008

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

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

0.32418 59 / 182 British	0.38525 47 / 122 African-American	0.23656 44 / 186 Chinese Dai	0.44186 76 / 172 Bengali	0.34574 65 / 188 Colombian
0.34112 73 / 214 Iberian	0.40104 77 / 192 African-Caribbean	0.34466 71 / 206 Han, Beijing	0.52913 109 / 206 Gujarati Indian	0.40625 52 / 128 Mexican, LA
0.29907 64 / 214 Toscani	0.42424 84 / 198 Esan, Nigeria	0.35577 74 / 208 Japanese	0.41176 84 / 204 Indian Telugu	0.53529 91 / 170 Peruvian
0.28283 56 / 198 Utah Europeans	0.41593 94 / 226 Gambian	0.35859 71 / 198 Kinh, Vietnam	0.44792 86 / 192 Punjabi, Lahore	0.29808 62 / 208 Puerto Rican
	0.42929 85 / 198 Luhya, Kenya	0.30000 63 / 210 Southern Han	0.43137 88 / 204 Tamil
	0.43529 74 / 170 Mende
	0.37500 81 / 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	ENST00000257209		NM_025135.2
Protein	ENSP00000257209			Q2V2M9

Missense Variant Predictions
SIFT	Grantham	Polyphen-DIV	Polyphen-VAR	Summary 37.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated	conservative	probably damaging	possibly damaging
LRT	MutationTaster	MutationAssessor	FATHMM
deleterious	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.