• Atlas of Cardiac Genetic Variation
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•           Inherited Cardiac Conditions          
  • Hypertrophic Cardiomyopathy - HCM
  • Dilated Cardiomyopathy - DCM
  • Arrhythmogenic RV Cardiomyopathy - ARVC
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• ABCC9ACTC1ACTN2ANK2ANKRD1CALR3CASQ2CAV3CRYABCSRP3CTF1DESDSC2DSG2DSPDTNAEMDFHL1FHL2FXNGLAJPH2JUPKCNE1KCNE2KCNH2KCNJ2KCNQ1KLF10LAMA4LAMP2LDB3LMNAMYBPC3MYH6MYH7MYL2MYL3MYLK2MYOM1MYOZ2MYPNNEXNOBSCNPDLIM3PKP2PLNPRKAG2RBM20RYR2SCN5ASGCDSRITAZTCAPTGFB3TMEM43TNNC1TNNI3TNNT2TPM1TRIM54TRIM55TRIM63TTNTTRVCL

FHOD3 : c.1371_1372delAG

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1371_1372delAG	p.Arg461AlafsTer48	deletion	frameshift	chr18:34261459-34261460 (forward strand)	0.02461097

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.02461097 (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	0.02442950 1548 / 63366	0.01508793 151 / 10008	0.02111650 174 / 8240	0.03922830 610 / 15550	0.02575958 273 / 10598	0.00750469 48 / 6396	0.03096330 27 / 872	0.02461097 2831 / 115030
ESP	0.00000 0 / 8600	0.00000 0 / 4400						0.00000 0 / 13000
1KG	0.00000 0 / 1006	0.00000 0 / 1322	0.00000 0 / 1008	0.00000 0 / 978	0.00000 0 / 694	0.00000 0 / 198		0.00000 0 / 5008

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

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.