CRELD1 : c.37A>G

CRELD1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.37A>Gp.M13V (Met > Val)substitutionmissense chr3:9976159 (forward strand)0.99158674

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.99158674 (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
ExAC0.98893454
65956 / 66694		0.99788543
10382 / 10404		0.99988442
8651 / 8652		0.99000727
16347 / 16512		0.99403939
11507 / 11576		0.99758089
6598 / 6614		0.98893805
894 / 904		0.99158674
120335 / 121356
ESP 0.98791
8496 / 8600		 0.99841
4399 / 4406		 0.99146
12895 / 13006
1KG
 0.98020
792 / 808		 1.00000
1322 / 1322		 1.00000
1008 / 1008		 0.99693
975 / 978		 0.99712
692 / 694		 0.99495
197 / 198		 0.99561
4986 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.97253
177 / 182
British
1.00000
122 / 122
African-American
1.00000
186 / 186
Chinese Dai
0.98837
170 / 172
Bengali
0.99468
187 / 188
Colombian
0.97196
208 / 214
Iberian
1.00000
192 / 192
African-Caribbean
1.00000
206 / 206
Han, Beijing
1.00000
206 / 206
Gujarati Indian
1.00000
128 / 128
Mexican, LA
0.98598
211 / 214
Toscani
1.00000
198 / 198
Esan, Nigeria
1.00000
208 / 208
Japanese
1.00000
204 / 204
Indian Telugu
1.00000
170 / 170
Peruvian
0.98990
196 / 198
Utah Europeans
1.00000
226 / 226
Gambian
1.00000
198 / 198
Kinh, Vietnam
0.99479
191 / 192
Punjabi, Lahore
0.99519
207 / 208
Puerto Rican
1.00000
198 / 198
Luhya, Kenya
1.00000
210 / 210
Southern Han
1.00000
204 / 204
Tamil
1.00000
170 / 170
Mende
1.00000
216 / 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 ENST00000383811 NM_015513.4
Protein ENSP00000373322 Q96HD1

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
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.