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NM_002473.6(MYH9):c.651C>A (p.Ile217=) AND Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Germline classification:
Uncertain significance (1 submission)
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:
RCV002245479.2

Allele description [Variation Report for NM_002473.6(MYH9):c.651C>A (p.Ile217=)]

NM_002473.6(MYH9):c.651C>A (p.Ile217=)

Gene:
MYH9:myosin heavy chain 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.3
Genomic location:
Preferred name:
NM_002473.6(MYH9):c.651C>A (p.Ile217=)
HGVS:
  • NC_000022.11:g.36322483G>T
  • NG_011884.2:g.70536C>A
  • NM_002473.6:c.651C>AMANE SELECT
  • NP_002464.1:p.Ile217=
  • LRG_567t1:c.651C>A
  • LRG_567:g.70536C>A
  • NC_000022.10:g.36718528G>T
  • NM_002473.5:c.651C>A
Links:
dbSNP: rs2017270174
NCBI 1000 Genomes Browser:
rs2017270174
Molecular consequence:
  • NM_002473.6:c.651C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)
Synonyms:
DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS; MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS; BLEEDING DISORDER, PLATELET-TYPE, 6; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015912; MedGen: C5200934; Orphanet: 182050; OMIM: 155100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002515758ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002515758.1

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

Last Updated: May 7, 2024