TTN : c.97795+6G>T

TTN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.97795+6G>Tsubstitutionsplice site chr2:179406003 (reverse strand)0.38296669

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.38296669 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

DCM

OMGL: Detected in 0 / 304 DCM patients.

LMM:   Detected in 0 / 156 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
ExAC0.26099635
2148 / 8230		0.55591311
1382 / 2486		0.71646341
470 / 656		0.60161146
1344 / 2234		0.44811321
190 / 424		0.28671329
492 / 1716		0.40853659
67 / 164		0.38296669
6093 / 15910
ESP 0.21019
1684 / 8012		 0.49946
1837 / 3678		 0.30120
3521 / 11690
1KG
 0.23391
189 / 808		 0.56051
741 / 1322		 0.71329
719 / 1008		 0.55010
538 / 978		 0.40202
279 / 694		 0.30808
61 / 198		 0.50459
2527 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.23077
42 / 182
British
0.50820
62 / 122
African-American
0.83871
156 / 186
Chinese Dai
0.63372
109 / 172
Bengali
0.38830
73 / 188
Colombian
0.23832
51 / 214
Iberian
0.54688
105 / 192
African-Caribbean
0.65049
134 / 206
Han, Beijing
0.49515
102 / 206
Gujarati Indian
0.38281
49 / 128
Mexican, LA
0.26168
56 / 214
Toscani
0.63131
125 / 198
Esan, Nigeria
0.63942
133 / 208
Japanese
0.55392
113 / 204
Indian Telugu
0.50588
86 / 170
Peruvian
0.20202
40 / 198
Utah Europeans
0.56637
128 / 226
Gambian
0.73737
146 / 198
Kinh, Vietnam
0.53646
103 / 192
Punjabi, Lahore
0.34135
71 / 208
Puerto Rican
0.51010
101 / 198
Luhya, Kenya
0.71429
150 / 210
Southern Han
0.54412
111 / 204
Tamil
0.53529
91 / 170
Mende
0.59722
129 / 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 ENST00000589042 LRG_391t1NM_001267550.1
Protein ENSP00000467141 LRG_391p1



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.