TRDN : c.1313T>A

TRDN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1313T>Ap.I438N (Ile > Asn)substitutionmissense chr6:123687288 (reverse strand)0.00691466

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.00691466 (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
ExAC0.00006017
4 / 66476		0.00010227
1 / 9778		0.08069399
693 / 8588		0.00759325
125 / 16462		0.00043358
5 / 11532		0.00000000
0 / 6592		0.00446429
4 / 896		0.00691466
832 / 120324
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.00000
0 / 79		 0.00000
0 / 47		 0.92593
75 / 81		 0.07937
5 / 63		 0.00000
0 / 34		 0.00000
0 / 15		 0.26316
80 / 304
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00000
0 / 18
British
0.00000
0 / 1
African-American
0.94118
16 / 17
Chinese Dai
0.00000
0 / 11
Bengali
0.00000
0 / 10
Colombian
0.00000
0 / 15
Iberian
0.00000
0 / 8
African-Caribbean
0.87500
14 / 16
Han, Beijing
0.06667
1 / 15
Gujarati Indian
0.00000
0 / 7
Mexican, LA
0.00000
0 / 12
Toscani
0.00000
0 / 16
Esan, Nigeria
0.90000
18 / 20
Japanese
0.10000
1 / 10
Indian Telugu
0.00000
0 / 5
Peruvian
0.00000
0 / 19
Utah Europeans
0.00000
0 / 4
Gambian
0.93750
15 / 16
Kinh, Vietnam
0.00000
0 / 11
Punjabi, Lahore
0.00000
0 / 12
Puerto Rican
0.00000
0 / 4
Luhya, Kenya
1.00000
12 / 12
Southern Han
0.18750
3 / 16
Tamil
0.00000
0 / 5
Mende
0.00000
0 / 9
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 ENST00000398178 NM_006073.2
Protein ENSP00000381240 Q13061

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.