FN1 : c.44A>T

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.44A>T	p.Q15L (Gln > Leu)	substitution	missense	chr2:216300482 (reverse strand)	0.76906556

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.76906556 (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
ExAC	0.76661204 37426 / 48820	0.88112617 6760 / 7672	0.91987830 6349 / 6902	0.61544952 8023 / 13036	0.77329659 6174 / 7984	0.81926463 3164 / 3862	0.75993884 497 / 654	0.76906556 68393 / 88930
ESP	0.74907 6442 / 8600	0.86558 3812 / 4404						0.78853 10254 / 13004
1KG	0.75495 610 / 808	0.90091 1191 / 1322	0.92460 932 / 1008	0.55419 542 / 978	0.78530 545 / 694	0.81818 162 / 198		0.79513 3982 / 5008

View sub-population details for 1000 Genomes (1KG) data

Hide sub-population details for 1000 Genomes (1KG) data

0.74176 135 / 182 British	0.85246 104 / 122 African-American	0.87097 162 / 186 Chinese Dai	0.54070 93 / 172 Bengali	0.82979 156 / 188 Colombian
0.74299 159 / 214 Iberian	0.86458 166 / 192 African-Caribbean	0.95631 197 / 206 Han, Beijing	0.56796 117 / 206 Gujarati Indian	0.79688 102 / 128 Mexican, LA
0.75234 161 / 214 Toscani	0.88384 175 / 198 Esan, Nigeria	0.96635 201 / 208 Japanese	0.53922 110 / 204 Indian Telugu	0.75294 128 / 170 Peruvian
0.78283 155 / 198 Utah Europeans	0.92478 209 / 226 Gambian	0.87374 173 / 198 Kinh, Vietnam	0.56771 109 / 192 Punjabi, Lahore	0.76442 159 / 208 Puerto Rican
	0.89899 178 / 198 Luhya, Kenya	0.94762 199 / 210 Southern Han	0.55392 113 / 204 Tamil
	0.92353 157 / 170 Mende
	0.93519 202 / 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

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	moderately radical	benign	benign
LRT	MutationTaster	MutationAssessor	FATHMM
neutral	polymorphism (auto)	neutral	tolerated

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.