HFE : c.340+4T>C

HFE gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.340+4T>Csubstitutionsplice site chr6:26091336 (forward strand)0.36860026

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.36860026 (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
ExAC0.32052974
21371 / 66674		0.37560224
3898 / 10378		0.67881944
5865 / 8640		0.36930717
6098 / 16512		0.41263394
4775 / 11572		0.35390200
2340 / 6612		0.39955850
362 / 906		0.36860026
44709 / 121294
ESP 0.33558
2886 / 8600		 0.36586
1612 / 4406		 0.34584
4498 / 13006
1KG
 0.36757
297 / 808		 0.37897
501 / 1322		 0.62897
634 / 1008		 0.34867
341 / 978		 0.42219
293 / 694		 0.35859
71 / 198		 0.42672
2137 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.39011
71 / 182
British
0.36885
45 / 122
African-American
0.55376
103 / 186
Chinese Dai
0.34884
60 / 172
Bengali
0.31915
60 / 188
Colombian
0.38785
83 / 214
Iberian
0.31771
61 / 192
African-Caribbean
0.66019
136 / 206
Han, Beijing
0.33981
70 / 206
Gujarati Indian
0.37500
48 / 128
Mexican, LA
0.35047
75 / 214
Toscani
0.36364
72 / 198
Esan, Nigeria
0.76442
159 / 208
Japanese
0.34804
71 / 204
Indian Telugu
0.54706
93 / 170
Peruvian
0.34343
68 / 198
Utah Europeans
0.45575
103 / 226
Gambian
0.46465
92 / 198
Kinh, Vietnam
0.34375
66 / 192
Punjabi, Lahore
0.44231
92 / 208
Puerto Rican
0.32828
65 / 198
Luhya, Kenya
0.68571
144 / 210
Southern Han
0.36275
74 / 204
Tamil
0.47059
80 / 170
Mende
0.34722
75 / 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 ENST00000357618 NM_000410.3
Protein ENSP00000417404 Q30201



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.