SYNM : c.985G>A

SYNM gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.985G>Ap.V329I (Val > Ile)substitutionmissense chr15:99666979 (forward strand)0.13417930

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.13417930 (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
ExAC0.15113365
2533 / 16760		0.13825983
464 / 3356		0.10035419
170 / 1694		0.11661912
981 / 8412		0.12942122
161 / 1244		0.09625668
216 / 2244		0.12874251
43 / 334		0.13417930
4568 / 34044
ESP 0.07943
652 / 8208		 0.08245
311 / 3772		 0.08038
963 / 11980
1KG
 0.08292
67 / 808		 0.10212
135 / 1322		 0.04663
47 / 1008		 0.08589
84 / 978		 0.04323
30 / 694		 0.07071
14 / 198		 0.07528
377 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.04945
9 / 182
British
0.09836
12 / 122
African-American
0.04301
8 / 186
Chinese Dai
0.08140
14 / 172
Bengali
0.04255
8 / 188
Colombian
0.05607
12 / 214
Iberian
0.09896
19 / 192
African-Caribbean
0.03883
8 / 206
Han, Beijing
0.07282
15 / 206
Gujarati Indian
0.01562
2 / 128
Mexican, LA
0.14019
30 / 214
Toscani
0.10101
20 / 198
Esan, Nigeria
0.05288
11 / 208
Japanese
0.09314
19 / 204
Indian Telugu
0.04706
8 / 170
Peruvian
0.08081
16 / 198
Utah Europeans
0.08407
19 / 226
Gambian
0.05556
11 / 198
Kinh, Vietnam
0.09896
19 / 192
Punjabi, Lahore
0.05769
12 / 208
Puerto Rican
0.08081
16 / 198
Luhya, Kenya
0.04286
9 / 210
Southern Han
0.08333
17 / 204
Tamil
0.12941
22 / 170
Mende
0.12500
27 / 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 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.