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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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001881057GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Apr 3, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001881057.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 10, 2024