NM_002465.4(MYBPC1):c.1634-18del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 10, 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:: RCV001689835.3

Allele description [Variation Report for NM_002465.4(MYBPC1):c.1634-18del]

NM_002465.4(MYBPC1):c.1634-18del

Gene:

MYBPC1:myosin binding protein C1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q23.2

Genomic location:

Preferred name:

NM_002465.4(MYBPC1):c.1634-18del

HGVS:

NC_000012.12:g.101653097del
NG_031912.2:g.63128del
NM_001254718.3:c.1559-18del
NM_001254719.3:c.1559-18del
NM_001254720.3:c.1523-18del
NM_001254721.3:c.1502-18del
NM_001254722.3:c.1481-18del
NM_001254723.3:c.1520-18del
NM_001404675.1:c.1634-18del
NM_001404676.1:c.1502-18del
NM_001404677.1:c.1424-18del
NM_001404678.1:c.1502-18del
NM_001404679.1:c.1424-18del
NM_001404680.1:c.1481-18del
NM_001404681.1:c.1424-18del
NM_002465.4:c.1634-18delMANE SELECT
NM_206819.4:c.1634-18del
NM_206820.4:c.1559-18del
NM_206821.4:c.1559-18del
NC_000012.11:g.102046875del
NG_031912.1:g.63167del
NM_002465.3:c.1634-18delC

Links:

dbSNP: rs3835190

NCBI 1000 Genomes Browser:

rs3835190

Molecular consequence:

NM_001254718.3:c.1559-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001254719.3:c.1559-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001254720.3:c.1523-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001254721.3:c.1502-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001254722.3:c.1481-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001254723.3:c.1520-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001404675.1:c.1634-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001404676.1:c.1502-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001404677.1:c.1424-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001404678.1:c.1502-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001404679.1:c.1424-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001404680.1:c.1481-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001404681.1:c.1424-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_002465.4:c.1634-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_206819.4:c.1634-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_206820.4:c.1559-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_206821.4:c.1559-18del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001910310	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Jul 10, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001910310

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Jul 10, 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, SCV001910310.1

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

#	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: Mar 10, 2024

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