F7 : c.64+9G>A

F7 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.64+9G>Asubstitutionsplice site chr13:113760228 (forward strand)0.20961193

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.20961193 (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
ExAC0.18032992
4329 / 24006		0.30048243
1744 / 5804		0.05270270
195 / 3700		0.29153735
2818 / 9666		0.21279373
489 / 2298		0.15918367
156 / 980		0.22807018
78 / 342		0.20961193
9809 / 46796
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.13490
109 / 808		 0.32148
425 / 1322		 0.02976
30 / 1008		 0.29857
292 / 978		 0.12536
87 / 694		 0.06566
13 / 198		 0.19089
956 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.07143
13 / 182
British
0.26230
32 / 122
African-American
0.01613
3 / 186
Chinese Dai
0.30233
52 / 172
Bengali
0.10106
19 / 188
Colombian
0.15421
33 / 214
Iberian
0.26562
51 / 192
African-Caribbean
0.03883
8 / 206
Han, Beijing
0.23786
49 / 206
Gujarati Indian
0.10938
14 / 128
Mexican, LA
0.20561
44 / 214
Toscani
0.37374
74 / 198
Esan, Nigeria
0.02885
6 / 208
Japanese
0.33333
68 / 204
Indian Telugu
0.13529
23 / 170
Peruvian
0.09596
19 / 198
Utah Europeans
0.30088
68 / 226
Gambian
0.03030
6 / 198
Kinh, Vietnam
0.24479
47 / 192
Punjabi, Lahore
0.14904
31 / 208
Puerto Rican
0.44444
88 / 198
Luhya, Kenya
0.03333
7 / 210
Southern Han
0.37255
76 / 204
Tamil
0.29412
50 / 170
Mende
0.28704
62 / 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 ENST00000375581 NM_000131.3
Protein ENSP00000364731 P08709



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.