• Atlas of Cardiac Genetic Variation
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•           Inherited Cardiac Conditions          
  • Hypertrophic Cardiomyopathy - HCM
  • Dilated Cardiomyopathy - DCM
  • Arrhythmogenic RV Cardiomyopathy - ARVC
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• ABCC9ACTC1ACTN2ANK2ANKRD1CALR3CASQ2CAV3CRYABCSRP3CTF1DESDSC2DSG2DSPDTNAEMDFHL1FHL2FXNGLAJPH2JUPKCNE1KCNE2KCNH2KCNJ2KCNQ1KLF10LAMA4LAMP2LDB3LMNAMYBPC3MYH6MYH7MYL2MYL3MYLK2MYOM1MYOZ2MYPNNEXNOBSCNPDLIM3PKP2PLNPRKAG2RBM20RYR2SCN5ASGCDSRITAZTCAPTGFB3TMEM43TNNC1TNNI3TNNT2TPM1TRIM54TRIM55TRIM63TTNTTRVCL

CASQ2 : c.738-10_738-9delTT

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.738-10_738-9delTT		deletion	splice site	chr1:116268183-116268184 (reverse strand)	0.10648739

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.10648739 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

DCM	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
ExAC	0.11141337 3727 / 33452	0.06019152 264 / 4386	0.07021380 289 / 4116	0.13726836 1200 / 8742	0.07818686 395 / 5052	0.12129462 401 / 3306	0.13452915 60 / 446	0.10648739 6336 / 59500
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	ENST00000261448	LRG_404t1	NM_001232.3
Protein	ENSP00000261448	LRG_404p1		O14958

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.