FN1 : c.149-3C>T

FN1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.149-3C>Tsubstitutionsplice site chr2:216299550 (reverse strand)0.31964754

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.31964754 (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
ExAC0.23605697
15745 / 66700		0.28873510
3004 / 10404		0.92204488
7972 / 8646		0.23652332
3905 / 16510		0.52079362
6011 / 11542		0.28041768
1853 / 6608		0.31828194
289 / 908		0.31964754
38779 / 121318
ESP 0.13209
1136 / 8600		 0.16886
744 / 4406		 0.14455
1880 / 13006
1KG
 0.26238
212 / 808		 0.27383
362 / 1322		 0.92460
932 / 1008		 0.23517
230 / 978		 0.47695
331 / 694		 0.24242
48 / 198		 0.42232
2115 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.24176
44 / 182
British
0.25410
31 / 122
African-American
0.87634
163 / 186
Chinese Dai
0.27326
47 / 172
Bengali
0.44149
83 / 188
Colombian
0.23364
50 / 214
Iberian
0.24479
47 / 192
African-Caribbean
0.95146
196 / 206
Han, Beijing
0.23301
48 / 206
Gujarati Indian
0.48438
62 / 128
Mexican, LA
0.31776
68 / 214
Toscani
0.25758
51 / 198
Esan, Nigeria
0.97115
202 / 208
Japanese
0.20588
42 / 204
Indian Telugu
0.65294
111 / 170
Peruvian
0.25253
50 / 198
Utah Europeans
0.27876
63 / 226
Gambian
0.86869
172 / 198
Kinh, Vietnam
0.20833
40 / 192
Punjabi, Lahore
0.36058
75 / 208
Puerto Rican
0.32323
64 / 198
Luhya, Kenya
0.94762
199 / 210
Southern Han
0.25980
53 / 204
Tamil
0.25294
43 / 170
Mende
0.29167
63 / 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.