ENDOG : c.35C>T

ENDOG gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.35C>Tp.S12L (Ser > Leu)substitutionmissense chr9:131580998 (forward strand)0.66666667

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.66666667 (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
ExAC0.00000000
0 / 0		0.00000000
0 / 2		1.00000000
2 / 2		0.00000000
0 / 0		1.00000000
2 / 2		0.00000000
0 / 0		0.00000000
0 / 0		0.66666667
4 / 6
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.72030
582 / 808		 0.28669
379 / 1322		 0.73313
739 / 1008		 0.59407
581 / 978		 0.78386
544 / 694		 0.85354
169 / 198		 0.59784
2994 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.80769
147 / 182
British
0.45902
56 / 122
African-American
0.69355
129 / 186
Chinese Dai
0.57558
99 / 172
Bengali
0.76596
144 / 188
Colombian
0.58411
125 / 214
Iberian
0.30729
59 / 192
African-Caribbean
0.78641
162 / 206
Han, Beijing
0.58252
120 / 206
Gujarati Indian
0.79688
102 / 128
Mexican, LA
0.70561
151 / 214
Toscani
0.32323
64 / 198
Esan, Nigeria
0.78846
164 / 208
Japanese
0.61275
125 / 204
Indian Telugu
0.84118
143 / 170
Peruvian
0.80303
159 / 198
Utah Europeans
0.19027
43 / 226
Gambian
0.70202
139 / 198
Kinh, Vietnam
0.61979
119 / 192
Punjabi, Lahore
0.74519
155 / 208
Puerto Rican
0.42424
84 / 198
Luhya, Kenya
0.69048
145 / 210
Southern Han
0.57843
118 / 204
Tamil
0.14118
24 / 170
Mende
0.22685
49 / 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 ENST00000372642 NM_004435.2
Protein ENSP00000361725 Q14249

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 radical benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) neutral 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.