ITIH4 : c.2723+7T>C

ITIH4 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2723+7T>Csubstitutionsplice site chr3:52847984 (reverse strand)0.04979928

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.04979928 (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
ExAC0.00650610
349 / 53642		0.25299401
2197 / 8684		0.01651881
108 / 6538		0.14412353
2016 / 13988		0.01448022
134 / 9254		0.00347544
15 / 4316		0.02609890
19 / 728		0.04979928
4838 / 97150
ESP 0.00640
55 / 8600		 0.21312
939 / 4406		 0.07643
994 / 13006
1KG
 0.00371
3 / 808		 0.26324
348 / 1322		 0.01587
16 / 1008		 0.17076
167 / 978		 0.02738
19 / 694		 0.00000
0 / 198		 0.11042
553 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.01099
2 / 182
British
0.19672
24 / 122
African-American
0.02151
4 / 186
Chinese Dai
0.13372
23 / 172
Bengali
0.02128
4 / 188
Colombian
0.00000
0 / 214
Iberian
0.19271
37 / 192
African-Caribbean
0.01942
4 / 206
Han, Beijing
0.18447
38 / 206
Gujarati Indian
0.00781
1 / 128
Mexican, LA
0.00467
1 / 214
Toscani
0.27778
55 / 198
Esan, Nigeria
0.00481
1 / 208
Japanese
0.16176
33 / 204
Indian Telugu
0.01765
3 / 170
Peruvian
0.00000
0 / 198
Utah Europeans
0.25664
58 / 226
Gambian
0.00505
1 / 198
Kinh, Vietnam
0.18750
36 / 192
Punjabi, Lahore
0.05288
11 / 208
Puerto Rican
0.27273
54 / 198
Luhya, Kenya
0.02857
6 / 210
Southern Han
0.18137
37 / 204
Tamil
0.30000
51 / 170
Mende
0.31944
69 / 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.