TNNI3 : c.25-8T>A

TNNI3 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.25-8T>Asubstitutionsplice site chr19:55668509 (reverse strand)0.35374061

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.35374061 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

HCM

OMGL: Detected in 0 / 3135 HCM patients.

LMM:   Detected in 0 / 2912 HCM patients.

DCM

OMGL: Detected in 0 / 483 DCM patients.

LMM:   Detected in 0 / 756 DCM patients.

For more information on the clinical significance of this variant, please see the ClinVar entry.

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.24305044
10562 / 43456		0.63884320
4661 / 7296		0.46502770
2686 / 5776		0.44476793
5347 / 12022		0.57212858
2919 / 5102		0.30166271
762 / 2526		0.37449393
185 / 494		0.35374061
27122 / 76672
ESP 0.19475
1625 / 8344		 0.56851
2282 / 4014		 0.31615
3907 / 12358
1KG
 0.18564
150 / 808		 0.68986
912 / 1322		 0.43948
443 / 1008		 0.45603
446 / 978		 0.43372
301 / 694		 0.21212
42 / 198		 0.45807
2294 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.13736
25 / 182
British
0.56557
69 / 122
African-American
0.40323
75 / 186
Chinese Dai
0.50000
86 / 172
Bengali
0.40957
77 / 188
Colombian
0.20561
44 / 214
Iberian
0.65104
125 / 192
African-Caribbean
0.48544
100 / 206
Han, Beijing
0.47573
98 / 206
Gujarati Indian
0.36719
47 / 128
Mexican, LA
0.23832
51 / 214
Toscani
0.63131
125 / 198
Esan, Nigeria
0.43750
91 / 208
Japanese
0.41176
84 / 204
Indian Telugu
0.61176
104 / 170
Peruvian
0.15152
30 / 198
Utah Europeans
0.76106
172 / 226
Gambian
0.45960
91 / 198
Kinh, Vietnam
0.41146
79 / 192
Punjabi, Lahore
0.35096
73 / 208
Puerto Rican
0.74242
147 / 198
Luhya, Kenya
0.40952
86 / 210
Southern Han
0.48529
99 / 204
Tamil
0.72941
124 / 170
Mende
0.69444
150 / 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 ENST00000344887 LRG_432t1NM_000363.4
Protein ENSP00000341838 LRG_432p1P19429



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.