MYBPC3 : c.506-12delC

MYBPC3 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.506-12delCdeletionsplice site chr11:0 (reverse strand)0.68791751

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.68791751 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

HCM

OMGL: Detected in 0 / 3267 HCM patients.

LMM:   Detected in 0 / 2912 HCM patients.

DCM

OMGL: Detected in 0 / 405 DCM patients.

LMM:   Detected in 0 / 756 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
ExAC0.73432843
28583 / 38924		0.42665583
2100 / 4922		0.64376646
2933 / 4556		0.71574624
8191 / 11444		0.60113387
3287 / 5468		0.62192475
1719 / 2764		0.72727273
352 / 484		0.68791751
47165 / 68562
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.73391
593 / 808		 0.35552
470 / 1322		 0.66071
666 / 1008		 0.76892
752 / 978		 0.66427
461 / 694		 0.59091
117 / 198		 0.61082
3059 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.70330
128 / 182
British
0.40164
49 / 122
African-American
0.72043
134 / 186
Chinese Dai
0.77326
133 / 172
Bengali
0.64894
122 / 188
Colombian
0.74299
159 / 214
Iberian
0.41667
80 / 192
African-Caribbean
0.64078
132 / 206
Han, Beijing
0.77670
160 / 206
Gujarati Indian
0.65625
84 / 128
Mexican, LA
0.76636
164 / 214
Toscani
0.33333
66 / 198
Esan, Nigeria
0.60096
125 / 208
Japanese
0.81373
166 / 204
Indian Telugu
0.75294
128 / 170
Peruvian
0.71717
142 / 198
Utah Europeans
0.26991
61 / 226
Gambian
0.70707
140 / 198
Kinh, Vietnam
0.73438
141 / 192
Punjabi, Lahore
0.61058
127 / 208
Puerto Rican
0.44949
89 / 198
Luhya, Kenya
0.64286
135 / 210
Southern Han
0.74510
152 / 204
Tamil
0.32353
55 / 170
Mende
0.32407
70 / 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 ENST00000545968 LRG_386t1NM_000256.3
Protein ENSP00000442795 LRG_386p1Q14896



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.