SYNM : c.4031G>C

SYNM gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.4031G>Cp.G1344A (Gly > Ala)substitutionmissense chr15:99672599 (forward strand)0.14654115

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.14654115 (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
ExAC0.14898657
9938 / 66704		0.15269828
1494 / 9784		0.03574745
308 / 8616		0.12257635
2023 / 16504		0.24861592
2874 / 11560		0.14024206
927 / 6610		0.13363029
120 / 898		0.14654115
17684 / 120676
ESP 0.15421
1287 / 8346		 0.13995
564 / 4030		 0.14956
1851 / 12376
1KG
 0.13366
108 / 808		 0.14523
192 / 1322		 0.05060
51 / 1008		 0.10020
98 / 978		 0.19741
137 / 694		 0.15152
30 / 198		 0.12300
616 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.16484
30 / 182
British
0.18852
23 / 122
African-American
0.06989
13 / 186
Chinese Dai
0.12791
22 / 172
Bengali
0.21277
40 / 188
Colombian
0.12617
27 / 214
Iberian
0.11458
22 / 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
0.08081
16 / 198
Esan, Nigeria
0.07692
16 / 208
Japanese
0.06863
14 / 204
Indian Telugu
0.22353
38 / 170
Peruvian
0.12626
25 / 198
Utah Europeans
0.19469
44 / 226
Gambian
0.05556
11 / 198
Kinh, Vietnam
0.14062
27 / 192
Punjabi, Lahore
0.13462
28 / 208
Puerto Rican
0.17172
34 / 198
Luhya, Kenya
0.03333
7 / 210
Southern Han
0.07843
16 / 204
Tamil
0.14118
24 / 170
Mende
0.13426
29 / 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
12.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated moderately conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
polymorphism (auto) damaging


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.