CRYAB : c.324+4T>G

CRYAB gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.324+4T>Gsubstitutionsplice site chr11:111781047 (reverse strand)0.26953183

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.26953183 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

DCM

OMGL: Detected in 0 / 304 DCM patients.

LMM:   Detected in 0 / 121 DCM patients.

For more information on the clinical significance of this variant, please see the ClinVar entry.

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.29141684
19441 / 66712		0.21333846
2220 / 10406		0.18228082
1576 / 8646		0.25057541
4137 / 16510		0.29360415
3397 / 11570		0.25188993
1666 / 6614		0.30286344
275 / 908		0.26953183
32712 / 121366
ESP 0.29998
2578 / 8594		 0.21854
962 / 4402		 0.27239
3540 / 12996
1KG
 0.33045
267 / 808		 0.19516
258 / 1322		 0.19048
192 / 1008		 0.21779
213 / 978		 0.30692
213 / 694		 0.29293
58 / 198		 0.23982
1201 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.28022
51 / 182
British
0.21311
26 / 122
African-American
0.22043
41 / 186
Chinese Dai
0.21512
37 / 172
Bengali
0.36170
68 / 188
Colombian
0.32710
70 / 214
Iberian
0.16146
31 / 192
African-Caribbean
0.15534
32 / 206
Han, Beijing
0.15049
31 / 206
Gujarati Indian
0.32812
42 / 128
Mexican, LA
0.35047
75 / 214
Toscani
0.17172
34 / 198
Esan, Nigeria
0.19231
40 / 208
Japanese
0.22549
46 / 204
Indian Telugu
0.21765
37 / 170
Peruvian
0.35859
71 / 198
Utah Europeans
0.19027
43 / 226
Gambian
0.20707
41 / 198
Kinh, Vietnam
0.25521
49 / 192
Punjabi, Lahore
0.31731
66 / 208
Puerto Rican
0.27778
55 / 198
Luhya, Kenya
0.18095
38 / 210
Southern Han
0.24510
50 / 204
Tamil
0.14706
25 / 170
Mende
0.20370
44 / 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 ENST00000526180 LRG_407t1NM_001885.1
Protein ENSP00000436051 LRG_407p1P02511



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.