FN1 : c.1819+7A>T

FN1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1819+7A>Tsubstitutionsplice site chr2:216283958 (reverse strand)0.32060678

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.32060678 (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
ExAC0.24231462
16143 / 66620		0.22767513
2366 / 10392		0.92225821
7972 / 8644		0.24805967
4091 / 16492		0.53039250
6108 / 11516		0.28395998
1873 / 6596		0.32411504
293 / 904		0.32060678
38846 / 121164
ESP 0.23767
2044 / 8600		 0.23105
1018 / 4406		 0.23543
3062 / 13006
1KG
 0.26856
217 / 808		 0.22239
294 / 1322		 0.92460
932 / 1008		 0.24642
241 / 978		 0.47406
329 / 694		 0.24242
48 / 198		 0.41154
2061 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.24725
45 / 182
British
0.16393
20 / 122
African-American
0.87634
163 / 186
Chinese Dai
0.28488
49 / 172
Bengali
0.42553
80 / 188
Colombian
0.24766
53 / 214
Iberian
0.21875
42 / 192
African-Caribbean
0.94660
195 / 206
Han, Beijing
0.24757
51 / 206
Gujarati Indian
0.50000
64 / 128
Mexican, LA
0.33178
71 / 214
Toscani
0.19192
38 / 198
Esan, Nigeria
0.97115
202 / 208
Japanese
0.21569
44 / 204
Indian Telugu
0.64706
110 / 170
Peruvian
0.24242
48 / 198
Utah Europeans
0.25221
57 / 226
Gambian
0.87374
173 / 198
Kinh, Vietnam
0.22396
43 / 192
Punjabi, Lahore
0.36058
75 / 208
Puerto Rican
0.24242
48 / 198
Luhya, Kenya
0.94762
199 / 210
Southern Han
0.26471
54 / 204
Tamil
0.22353
38 / 170
Mende
0.23611
51 / 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 ENST00000354785 NM_212482.1
Protein ENSP00000346839



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.