TTN : c.79862C>T

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.79862C>Tp.T26621M (Thr > Met)substitutionmissense chr2:179430997 (reverse strand)0.23430820

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.23430820 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

The role on non-truncating TTN variants in cardiac disease has not yet been analysed in these studies.

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.16906432
11282 / 66732
0.33309529
3265 / 9802
0.60610296
5204 / 8586
0.30735223
5075 / 16512
0.18674282
2158 / 11556
0.16515426
1092 / 6612
0.22777778
205 / 900
0.23430820
28281 / 120700
ESP 0.16687
1385 / 8300
0.32734
1257 / 3840
0.21763
2642 / 12140
1KG
0.16955
137 / 808
0.34418
455 / 1322
0.62897
634 / 1008
0.31697
310 / 978
0.20605
143 / 694
0.17677
35 / 198
0.34225
1714 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.17033
31 / 182
British
0.29508
36 / 122
African-American
0.73118
136 / 186
Chinese Dai
0.37791
65 / 172
Bengali
0.22340
42 / 188
Colombian
0.18224
39 / 214
Iberian
0.29167
56 / 192
African-Caribbean
0.57767
119 / 206
Han, Beijing
0.28641
59 / 206
Gujarati Indian
0.14844
19 / 128
Mexican, LA
0.19159
41 / 214
Toscani
0.40909
81 / 198
Esan, Nigeria
0.59135
123 / 208
Japanese
0.30882
63 / 204
Indian Telugu
0.20000
34 / 170
Peruvian
0.13131
26 / 198
Utah Europeans
0.37611
85 / 226
Gambian
0.63636
126 / 198
Kinh, Vietnam
0.31250
60 / 192
Punjabi, Lahore
0.23077
48 / 208
Puerto Rican
0.30303
60 / 198
Luhya, Kenya
0.61905
130 / 210
Southern Han
0.30882
63 / 204
Tamil
0.35882
61 / 170
Mende
0.35185
76 / 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

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
50% of algorithms have predicted that this variant will adversely affect protein function
damaging moderately conservative possibly damaging possibly damaging
LRT MutationTaster MutationAssessor FATHMM
polymorphism (auto) medium impact 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.