FN1 : c.5978-12_5978-11delGT

FN1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.5978-12_5978-11delGTdeletionsplice site chr2:0-216240127 (reverse strand)0.31887902

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.31887902 (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
ExAC0.25703762
15632 / 60816		0.27317778
2646 / 9686		0.78277477
6353 / 8116		0.26031561
4025 / 15462		0.47525695
4994 / 10508		0.26756198
1554 / 5808		0.31763285
263 / 828		0.31887902
35467 / 111224
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.25866
209 / 808		 0.25492
337 / 1322		 0.76587
772 / 1008		 0.25767
252 / 978		 0.41354
287 / 694		 0.22222
44 / 198		 0.37959
1901 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.23077
42 / 182
British
0.27049
33 / 122
African-American
0.60753
113 / 186
Chinese Dai
0.30814
53 / 172
Bengali
0.36170
68 / 188
Colombian
0.22430
48 / 214
Iberian
0.24479
47 / 192
African-Caribbean
0.82524
170 / 206
Han, Beijing
0.24272
50 / 206
Gujarati Indian
0.44531
57 / 128
Mexican, LA
0.31776
68 / 214
Toscani
0.19697
39 / 198
Esan, Nigeria
0.83654
174 / 208
Japanese
0.21078
43 / 204
Indian Telugu
0.51765
88 / 170
Peruvian
0.25758
51 / 198
Utah Europeans
0.27434
62 / 226
Gambian
0.72727
144 / 198
Kinh, Vietnam
0.24479
47 / 192
Punjabi, Lahore
0.35577
74 / 208
Puerto Rican
0.20707
41 / 198
Luhya, Kenya
0.81429
171 / 210
Southern Han
0.28922
59 / 204
Tamil
0.28824
49 / 170
Mende
0.30556
66 / 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.