NM_000256.3(MYBPC3):c.3029_3030del (p.Glu1010fs) AND not provided

Germline classification:: not provided (1 submission)
Review status:: no classification provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000158388.2

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3029_3030del (p.Glu1010fs)]

NM_000256.3(MYBPC3):c.3029_3030del (p.Glu1010fs)

Gene:

MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NM_000256.3(MYBPC3):c.3029_3030del (p.Glu1010fs)

HGVS:

NC_000011.10:g.47333717CT[1]
NG_007667.1:g.23983AG[1]
NM_000256.3:c.3029_3030delMANE SELECT
NP_000247.2:p.Glu1010fs
LRG_386t1:c.3029_3030del
LRG_386:g.23983AG[1]
LRG_386p1:p.Glu1010fs
NC_000011.9:g.47355268CT[1]
NM_000256.3:c.3029_3030delAGMANE SELECT
p.E1010GfsX40

Protein change:

E1010fs

Links:

dbSNP: rs730880665

NCBI 1000 Genomes Browser:

rs730880665

Molecular consequence:

NM_000256.3:c.3029_3030del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000208323	GeneDx	no classification provided (GeneDx Variant Classification (06012015))	not provided	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000208323

GeneDx

no classification provided

(GeneDx Variant Classification (06012015))

not provided

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000208323.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.3029_3030delAG variant in MYBPC3 causes a shift in reading frame at codon Glutamic acid 1010, changing it to a Glycine, and creates a premature Stop codon at position 40 of the new reading frame. Although this change has not been reported previously as a mutation nor as a polymorphism to our knowledge, it is expected to result in an abnormal, truncated protein or in absence of protein from this allele due to mRNA decay.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 5, 2022

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