SYNM : c.3227C>T

SYNM gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.3227C>Tp.S1076L (Ser > Leu)substitutionmissense chr15:99671795 (forward strand)0.08370306

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.08370306 (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
ExAC0.08222271
5207 / 63328		0.06255646
554 / 8856		0.02394196
198 / 8270		0.08257396
1323 / 16022		0.16193490
1791 / 11060		0.07124226
437 / 6134		0.08915663
74 / 830		0.08370306
9584 / 114500
ESP 0.08430
710 / 8422		 0.04900
200 / 4082		 0.07278
910 / 12504
1KG
 0.07673
62 / 808		 0.05144
68 / 1322		 0.02877
29 / 1008		 0.07362
72 / 978		 0.15562
108 / 694		 0.07576
15 / 198		 0.07069
354 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.12088
22 / 182
British
0.07377
9 / 122
African-American
0.03763
7 / 186
Chinese Dai
0.08721
15 / 172
Bengali
0.14894
28 / 188
Colombian
0.06075
13 / 214
Iberian
0.04167
8 / 192
African-Caribbean
0.01942
4 / 206
Han, Beijing
0.07282
15 / 206
Gujarati Indian
0.18750
24 / 128
Mexican, LA
0.05607
12 / 214
Toscani
0.02020
4 / 198
Esan, Nigeria
0.02885
6 / 208
Japanese
0.04902
10 / 204
Indian Telugu
0.21176
36 / 170
Peruvian
0.07576
15 / 198
Utah Europeans
0.08407
19 / 226
Gambian
0.04545
9 / 198
Kinh, Vietnam
0.10417
20 / 192
Punjabi, Lahore
0.09615
20 / 208
Puerto Rican
0.04040
8 / 198
Luhya, Kenya
0.01429
3 / 210
Southern Han
0.05882
12 / 204
Tamil
0.07059
12 / 170
Mende
0.03704
8 / 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
37.5% of algorithms have predicted that this variant will adversely affect protein function
damaging moderately radical 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.