GHR : c.1319G>T

GHR gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1319G>Tp.C440F (Cys > Phe)substitutionmissense chr5:42718928 (forward strand)0.04034694

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.04034694 (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
ExAC0.00883042
588 / 66588		0.00453756
47 / 10358		0.12543433
1083 / 8634		0.16993820
2805 / 16506		0.02662517
308 / 11568		0.00498942
33 / 6614		0.02759382
25 / 906		0.04034694
4889 / 121174
ESP 0.00860
74 / 8600		 0.00477
21 / 4406		 0.00730
95 / 13006
1KG
 0.00619
5 / 808		 0.00000
0 / 1322		 0.15179
153 / 1008		 0.20654
202 / 978		 0.02450
17 / 694		 0.00000
0 / 198		 0.07528
377 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00549
1 / 182
British
0.00000
0 / 122
African-American
0.20430
38 / 186
Chinese Dai
0.15698
27 / 172
Bengali
0.02128
4 / 188
Colombian
0.00935
2 / 214
Iberian
0.00000
0 / 192
African-Caribbean
0.12621
26 / 206
Han, Beijing
0.19417
40 / 206
Gujarati Indian
0.02344
3 / 128
Mexican, LA
0.00935
2 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.08173
17 / 208
Japanese
0.24510
50 / 204
Indian Telugu
0.01765
3 / 170
Peruvian
0.00000
0 / 198
Utah Europeans
0.00000
0 / 226
Gambian
0.17677
35 / 198
Kinh, Vietnam
0.19792
38 / 192
Punjabi, Lahore
0.03365
7 / 208
Puerto Rican
0.00000
0 / 198
Luhya, Kenya
0.17619
37 / 210
Southern Han
0.23039
47 / 204
Tamil
0.00000
0 / 170
Mende
0.00000
0 / 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 ENST00000230882 NM_000163.4
Protein ENSP00000230882 P10912

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
25% of algorithms have predicted that this variant will adversely affect protein function
damaging radical benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral 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.