GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MYBPC3 S25Ninsufficiently evaluated not reviewed, f=0.000unknown var-GS18517-1100-36-ASM
MYBPC3 T59Ainsufficiently evaluated pathogenicunknown

(7 web hits)

MYBPC3 P117Shiftuncertain not revieweddominant

This is a disruptive variant which ClinVar reports causes hypertrophic cardiomyopathy (dbSNP ID: rs397516023). Many carriers are asymptomatic throughout their lives, but it can cause serious heart condition and sudden death. This condition may be treatable with cardiac monitoring, lifestyle changes, medication, and surgery.

MYBPC3 V158Minsufficiently evaluated benign, f=0.065unknown

Cardiogenomics database lists this as a benign polymorphism.

(8 web hits)

hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM
hu728FFF build 36 substitution variants
MYBPC3 T173Iinsufficiently evaluated not reviewedunknown

(1 web hit)

MYBPC3 V189Iinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
MYBPC3 S236Ginsufficiently evaluated benign, f=0.102unknown

Cardiogenomics database lists this as a benign polymorphism.

(23 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_D01_200_37
var-GS18505-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
var-GS18508-1100-36-ASM
var-GS18940-1100-36-ASM
MYBPC3 G278Einsufficiently evaluated not reviewed, f=0.005unknown var-GS19129-1100-36-ASM
MYBPC3 E312Qinsufficiently evaluated not reviewedunknown
MYBPC3 R326Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
MYBPC3 E334Kpathogenicdominant

This variant has been seen in hypertrophic cardiomyopathy patients — heterozygously in four unrelated Japanese and compound heterozygously (with R470W) in one Italian patient. The variant was not seen in 300 controls (p = 0.024) and was believed to act in a dominant fashion. The variant is also reported as pathogenic by one laboratory in ClinVar, and another lab labels it as “uncertain significance”: http://www.ncbi.nlm.nih.gov/clinvar/RCV000158325/ However, according to ExAC data, 1 in 110 individuals with East Asian ancestry carries this variant: http://exac.broadinstitute.org/variant/11-47367848-C-T This is far higher than the rate of the disease, indicating observations of the variant were probably coincidental and contradicting the proposed effect.

(21 web hits)

MYBPC3 R382Winsufficiently evaluated not reviewed, f=0.010unknown var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
MYBPC3 P382Linsufficiently evaluated not reviewedunknown
MYBPC3 R502Wpathogenicdominant

Reported by ClinVar to cause hypertrophic cardiomyopathy (https://www.ncbi.nlm.nih.gov/clinvar/variation/42540/). In ClinVar this variant is reported as “pathogenic” by eight sources, including GeneDx, Invitae, the Stanford Center for Inherited Cardiovascular Disease, and the Laboratory for Molecular Medicine (Partners HealthCare).

This last source provided seven publications supporting this classification (https://www.ncbi.nlm.nih.gov/pubmed/20031618,20378854,16199542,15519027,12707239,19574547,18809796). This variant is quite rare according to ExAC data, consistent with the reported disease-causing hypothesis (http://exac.broadinstitute.org/variant/11-47364249-G-A).

MYBPC3 G507Rinsufficiently evaluated not reviewed, f=0.001unknown var-GS18502-1100-36-ASM
MYBPC3 N515Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS19020-1100-36-ASM
MYBPC3 A522Tinsufficiently evaluated not reviewed, f=0.001unknown var-GS18505-1100-36-ASM
MYBPC3 E542Qinsufficiently evaluated pathogenic, f=0.000unknown

(26 web hits)

MYBPC3 R574Winsufficiently evaluated not reviewed, f=0.008unknown var-GS21767-1100-36-ASM
MYBPC3 R709Xinsufficiently evaluated not reviewedunknown
MYBPC3 G738Sinsufficiently evaluated not reviewedunknown
MYBPC3 R820Qinsufficiently evaluated pathogenicunknown

(13 web hits)

MYBPC3 R835Linsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
MYBPC3 Q850Xinsufficiently evaluated noneunknown
MYBPC3 R868Winsufficiently evaluated not reviewedunknown
MYBPC3 N948Tinsufficiently evaluated pathogenicunknown

(7 web hits)

MYBPC3 T957Suncertain benignunknown

Ehlermann et al. 2008 reported seeing this in one hypertrophic cardiomyopathy case in a screen of 158 patients, and not in 430 controls (they reported it as novel). Similarly, Rodríguez-García et al. 2010 saw it once in 130 cases and not in 200 controls. However, ExAC data reports an allele frequency of 0.15% in Europeans – 1 in 330 carriers. Both reported findings are consistent with ExAC data (and not significantly different from it). If this variant played any causal role (even one with reduced, but notable penetrance), it would have been seen much more frequently in patients; as no such enrichment was found, the pathogenic hypothesis is strongly disproven.

MYBPC3 Q1000Xinsufficiently evaluated not reviewedunknown
MYBPC3 E1096Xinsufficiently evaluated pathogenicunknown

(6 web hits)

MYBPC3 A1097Tinsufficiently evaluated noneunknown

(3 web hits)

hu728FFF build 36 substitution variants
MYBPC3 V1125Minsufficiently evaluated pathogenicunknown

(4 web hits)

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Total results: 31

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