JPH2 : c.1790C>G

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1790C>Gp.S597W (Ser > Trp)substitutionmissense chr20:42744525 (reverse strand)0.00001656

Effect in Cardiac Disease

This variant is considered a rare variant, with a population frequency of 0.00001656 (ExAC mean allelic frequency).

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.00003091
1 / 32354
0.00000000
0 / 3774
0.00000000
0 / 4384
0.00000000
0 / 11724
0.00000000
0 / 5346
0.00000000
0 / 2334
0.00000000
0 / 460
0.00001656
1 / 60376
ESP 0.00000
0 / 8600
0.00000
0 / 4400
0.00000
0 / 13000
1KG
0.00000
0 / 1006
0.00000
0 / 1322
0.00000
0 / 1008
0.00000
0 / 978
0.00000
0 / 694
0.00000
0 / 198
0.00000
0 / 5008

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 ENST00000372980 LRG_394t1NM_020433.4
Protein ENSP00000362071 LRG_394p1Q9BR39

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
50% of algorithms have predicted that this variant will adversely affect protein function
damaging radical possibly damaging possibly damaging
LRT MutationTaster MutationAssessor FATHMM
unknown polymorphism 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.