NC_000011.10:g.47347040G>A AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 26, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000598754.1

Allele description [Variation Report for NC_000011.10:g.47347040G>A]

NC_000011.10:g.47347040G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NC_000011.10:g.47347040G>A

HGVS:

NC_000011.10:g.47347040G>A
NG_007667.1:g.10663C>T
NM_000256.3:c.906-11C>TMANE SELECT
LRG_386t1:c.906-11C>T
LRG_386:g.10663C>T
NC_000011.9:g.47368591G>A

Links:

dbSNP: rs1296550753

NCBI 1000 Genomes Browser:

rs1296550753

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Flamella pleistocenica strain flam1 18S ribosomal RNA gene, partial sequence
Flamella pleistocenica strain flam1 18S ribosomal RNA gene, partial sequence
gi|745904322|gb|KP208180.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000709821	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jan 26, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000709821

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jan 26, 2018)

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, SCV000709821.2

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

Description

A variant of uncertain significance has been identified in the MYBPC3 gene. The c.906-11 C>T variant has not been published as pathogenic or been reported as benign to our knowledge. The c.906-11 C>T variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Splice-site predictors are uninformative as to the effect on the natural splice acceptor site, and in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

#	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: Oct 8, 2024

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