ITIH4 : c.2077+8G>A

ITIH4 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2077+8G>Asubstitutionsplice site chr3:52853401 (reverse strand)0.29608527

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.29608527 (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
ExAC0.37170181
24681 / 66400		0.18052875
1871 / 10364		0.06967308
601 / 8626		0.26227422
4327 / 16498		0.14941931
1724 / 11538		0.35116702
2317 / 6598		0.31415929
284 / 904		0.29608527
35805 / 120928
ESP 0.38442
3306 / 8600		 0.19383
854 / 4406		 0.31985
4160 / 13006
1KG
 0.34406
278 / 808		 0.14977
198 / 1322		 0.08631
87 / 1008		 0.21677
212 / 978		 0.20173
140 / 694		 0.34848
69 / 198		 0.19649
984 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.39011
71 / 182
British
0.22951
28 / 122
African-American
0.12903
24 / 186
Chinese Dai
0.25581
44 / 172
Bengali
0.25532
48 / 188
Colombian
0.31776
68 / 214
Iberian
0.20312
39 / 192
African-Caribbean
0.09223
19 / 206
Han, Beijing
0.20874
43 / 206
Gujarati Indian
0.11719
15 / 128
Mexican, LA
0.29439
63 / 214
Toscani
0.12121
24 / 198
Esan, Nigeria
0.05769
12 / 208
Japanese
0.23039
47 / 204
Indian Telugu
0.11765
20 / 170
Peruvian
0.38384
76 / 198
Utah Europeans
0.13274
30 / 226
Gambian
0.09596
19 / 198
Kinh, Vietnam
0.15625
30 / 192
Punjabi, Lahore
0.27404
57 / 208
Puerto Rican
0.09596
19 / 198
Luhya, Kenya
0.06190
13 / 210
Southern Han
0.23529
48 / 204
Tamil
0.13529
23 / 170
Mende
0.16204
35 / 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.