NM_002470.4(MYH3):c.5796+32del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Apr 3, 2021
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:: RCV001660227.2

Allele description [Variation Report for NM_002470.4(MYH3):c.5796+32del]

NM_002470.4(MYH3):c.5796+32del

Gene:

MYH3:myosin heavy chain 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_002470.4(MYH3):c.5796+32del

HGVS:

NC_000017.11:g.10629573del
NG_011537.1:g.32734del
NM_002470.4:c.5796+32delMANE SELECT
NC_000017.10:g.10532890del
NM_002470.3:c.5796+32delC

Links:

dbSNP: rs147333978

NCBI 1000 Genomes Browser:

rs147333978

Molecular consequence:

NM_002470.4:c.5796+32del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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PREDICTED: Homo sapiens protein phosphatase 2 regulatory subunit B'epsilon (PPP2...
PREDICTED: Homo sapiens protein phosphatase 2 regulatory subunit B'epsilon (PPP2R5E), transcript variant X1, mRNA
gi|2462540775|ref|XM_054376318.1|

Nucleotide
GLI-Kruppel family member GLI1 splice variant, partial [Homo sapiens]
GLI-Kruppel family member GLI1 splice variant, partial [Homo sapiens]
gi|538774570|dbj|BAN82437.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001881057	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Apr 3, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001881057

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Apr 3, 2021)

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, SCV001881057.1

#	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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