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NM_002470.4(MYH3):c.1002+1G>A AND MYH3-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001375881.1

Allele description [Variation Report for NM_002470.4(MYH3):c.1002+1G>A]

NM_002470.4(MYH3):c.1002+1G>A

Gene:
MYH3:myosin heavy chain 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_002470.4(MYH3):c.1002+1G>A
HGVS:
  • NC_000017.11:g.10645928C>T
  • NG_011537.1:g.16371G>A
  • NM_002470.4:c.1002+1G>AMANE SELECT
  • NC_000017.10:g.10549245C>T
Links:
dbSNP: rs150951216
NCBI 1000 Genomes Browser:
rs150951216
Molecular consequence:
  • NM_002470.4:c.1002+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
MYH3-related disorder
Synonyms:
MYH3-Related Disorders; MYH3-related condition
Identifiers:
MedGen: CN239329

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001572825Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
no assertion criteria provided
Likely pathogenic
(Jan 1, 2021) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital, SCV001572825.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024