ITIH4 : c.2296+8A>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.2296+8A>G		substitution	splice site	chr3:52852060 (reverse strand)	0.43110504

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.43110504 (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	0.39087511 25933 / 66346	0.66673171 6834 / 10250	0.36022754 3103 / 8614	0.40298689 6638 / 16472	0.58976801 6813 / 11552	0.35788035 2357 / 6586	0.40555556 365 / 900	0.43110504 52043 / 120720
ESP	0.38279 3292 / 8600	0.65297 2877 / 4406						0.47432 6169 / 13006
1KG	0.41089 332 / 808	0.70424 931 / 1322	0.37004 373 / 1008	0.45501 445 / 978	0.55764 387 / 694	0.37879 75 / 198		0.50779 2543 / 5008

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

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

0.37363 68 / 182 British	0.60656 74 / 122 African-American	0.27957 52 / 186 Chinese Dai	0.41860 72 / 172 Bengali	0.50000 94 / 188 Colombian
0.42056 90 / 214 Iberian	0.68750 132 / 192 African-Caribbean	0.49029 101 / 206 Han, Beijing	0.50485 104 / 206 Gujarati Indian	0.67188 86 / 128 Mexican, LA
0.52336 112 / 214 Toscani	0.78788 156 / 198 Esan, Nigeria	0.41346 86 / 208 Japanese	0.43137 88 / 204 Indian Telugu	0.58824 100 / 170 Peruvian
0.31313 62 / 198 Utah Europeans	0.71681 162 / 226 Gambian	0.27778 55 / 198 Kinh, Vietnam	0.50521 97 / 192 Punjabi, Lahore	0.51442 107 / 208 Puerto Rican
	0.64646 128 / 198 Luhya, Kenya	0.37619 79 / 210 Southern Han	0.41176 84 / 204 Tamil
	0.70588 120 / 170 Mende
	0.73611 159 / 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	ENST00000266041		NM_002218.4
Protein	ENSP00000266041			Q14624

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.