11:47368170-47368170 G > A

Classification

Category 5 curation
CMH MAF 18 / 11983 samples (0.15%)
18 het., 0 hom. (100%)
18 / 23966 total alleles (0.0751%)

gene: MYBPC3 synonym(s): CMH4, FHC, MYBP-C, MYBPC3, ENSG00000134571

OMIM
OMIM:600958: MYBPC3 (Autosomal dominant inheritance)
OMIM:615396: Cardiomyopathy, dilated, 1MM
OMIM:115197: Cardiomyopathy, hypertrophic, 4
OMIM:615396: Left ventricular noncompaction 10

NM_000256.3 [intron]
hgvs_c: NM_000256.3:c.926+8C>T
splice impact: five_prime_intronic
protein sequence: NP_000247.2

rs377595584
GMAF = 0.0003994
TOPMED_MAF = 0.00055746687054026

EVS
EVS MAF (European American/African American/All) = 0.000962,0.000247,0.000728

ExAC Non-Finnish, (33 / 62508), 0.0528%
gnomAD North-Western European, (52 / 45762), 0.114% curated_classification = 5