TNNI3 : c.373-10T>G

TNNI3 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.373-10T>Gsubstitutionsplice site chr19:55665584 (reverse strand)0.99996672

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.99996672 (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
ExAC1.00000000
66362 / 66362		1.00000000
9718 / 9718		1.00000000
8576 / 8576		0.99975763
16500 / 16504		1.00000000
11558 / 11558		1.00000000
6568 / 6568		1.00000000
896 / 896		0.99996672
120178 / 120182
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 1.00000
808 / 808		 1.00000
1322 / 1322		 1.00000
1008 / 1008		 1.00000
978 / 978		 1.00000
694 / 694		 1.00000
198 / 198		 1.00000
5008 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

1.00000
182 / 182
British
1.00000
122 / 122
African-American
1.00000
186 / 186
Chinese Dai
1.00000
172 / 172
Bengali
1.00000
188 / 188
Colombian
1.00000
214 / 214
Iberian
1.00000
192 / 192
African-Caribbean
1.00000
206 / 206
Han, Beijing
1.00000
206 / 206
Gujarati Indian
1.00000
128 / 128
Mexican, LA
1.00000
214 / 214
Toscani
1.00000
198 / 198
Esan, Nigeria
1.00000
208 / 208
Japanese
1.00000
204 / 204
Indian Telugu
1.00000
170 / 170
Peruvian
1.00000
198 / 198
Utah Europeans
1.00000
226 / 226
Gambian
1.00000
198 / 198
Kinh, Vietnam
1.00000
192 / 192
Punjabi, Lahore
1.00000
208 / 208
Puerto Rican
1.00000
198 / 198
Luhya, Kenya
1.00000
210 / 210
Southern Han
1.00000
204 / 204
Tamil
1.00000
170 / 170
Mende
1.00000
216 / 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.