SYNM : c.1697C>T

SYNM gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1697C>Tp.P566L (Pro > Leu)substitutionmissense chr15:99670265 (forward strand)0.14857829

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.14857829 (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
ExAC0.14775471
9792 / 66272		0.18356391
1778 / 9686		0.03660819
313 / 8550		0.12239425
2008 / 16406		0.25148446
2880 / 11452		0.13943619
920 / 6598		0.13116592
117 / 892		0.14857829
17808 / 119856
ESP 0.15108
1267 / 8386		 0.16340
666 / 4076		 0.15511
1933 / 12462
1KG
 0.13119
106 / 808		 0.19213
254 / 1322		 0.04960
50 / 1008		 0.10020
98 / 978		 0.19597
136 / 694		 0.14646
29 / 198		 0.13438
673 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.15934
29 / 182
British
0.21311
26 / 122
African-American
0.06989
13 / 186
Chinese Dai
0.12791
22 / 172
Bengali
0.21277
40 / 188
Colombian
0.12150
26 / 214
Iberian
0.18229
35 / 192
African-Caribbean
0.01942
4 / 206
Han, Beijing
0.09223
19 / 206
Gujarati Indian
0.24219
31 / 128
Mexican, LA
0.12150
26 / 214
Toscani
0.10606
21 / 198
Esan, Nigeria
0.07692
16 / 208
Japanese
0.06863
14 / 204
Indian Telugu
0.21765
37 / 170
Peruvian
0.12626
25 / 198
Utah Europeans
0.22566
51 / 226
Gambian
0.05556
11 / 198
Kinh, Vietnam
0.14062
27 / 192
Punjabi, Lahore
0.13462
28 / 208
Puerto Rican
0.22727
45 / 198
Luhya, Kenya
0.02857
6 / 210
Southern Han
0.07843
16 / 204
Tamil
0.18824
32 / 170
Mende
0.20370
44 / 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 ENST00000336292 LRG_415t1NM_145728.2
Protein ENSP00000336775 LRG_415p1

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
0% of algorithms have predicted that this variant will adversely affect protein function
tolerated moderately conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
polymorphism (auto) 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.