F7 : c.1238G>A

F7 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1238G>Ap.R413Q (Arg > Gln)substitutionmissense chr13:113773159 (forward strand)0.13414530

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.13414530 (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
ExAC0.12104636
7723 / 63802		0.12587341
1225 / 9732		0.05325933
451 / 8468		0.27574022
4526 / 16414		0.10178635
1151 / 11308		0.07514544
465 / 6188		0.14370546
121 / 842		0.13414530
15662 / 116754
ESP 0.10630
914 / 8598		 0.11722
516 / 4402		 0.11000
1430 / 13000
1KG
 0.12005
97 / 808		 0.11725
155 / 1322		 0.04663
47 / 1008		 0.30061
294 / 978		 0.12248
85 / 694		 0.07576
15 / 198		 0.13838
693 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.05495
10 / 182
British
0.08197
10 / 122
African-American
0.03226
6 / 186
Chinese Dai
0.32558
56 / 172
Bengali
0.08511
16 / 188
Colombian
0.13551
29 / 214
Iberian
0.08854
17 / 192
African-Caribbean
0.05340
11 / 206
Han, Beijing
0.25728
53 / 206
Gujarati Indian
0.10938
14 / 128
Mexican, LA
0.19159
41 / 214
Toscani
0.10101
20 / 198
Esan, Nigeria
0.06731
14 / 208
Japanese
0.35784
73 / 204
Indian Telugu
0.12941
22 / 170
Peruvian
0.08586
17 / 198
Utah Europeans
0.10177
23 / 226
Gambian
0.03535
7 / 198
Kinh, Vietnam
0.22396
43 / 192
Punjabi, Lahore
0.15865
33 / 208
Puerto Rican
0.15657
31 / 198
Luhya, Kenya
0.04286
9 / 210
Southern Han
0.33824
69 / 204
Tamil
0.18235
31 / 170
Mende
0.10648
23 / 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

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
12.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) low impact damaging


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.