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NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2020
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:
RCV001270614.3

Allele description [Variation Report for NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)]

NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)

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.3493C>T (p.Arg1165Cys)
HGVS:
  • NC_000022.11:g.36295069G>A
  • NG_011884.2:g.97950C>T
  • NM_002473.6:c.3493C>TMANE SELECT
  • NP_002464.1:p.Arg1165Cys
  • NP_002464.1:p.Arg1165Cys
  • LRG_567t1:c.3493C>T
  • LRG_567:g.97950C>T
  • LRG_567p1:p.Arg1165Cys
  • NC_000022.10:g.36691115G>A
  • NM_002473.4:c.3493C>T
  • NM_002473.5:c.3493C>T
  • P35579:p.Arg1165Cys
Protein change:
R1165C; ARG1165CYS
Links:
UniProtKB: P35579#VAR_010795; OMIM: 160775.0003; dbSNP: rs80338829
NCBI 1000 Genomes Browser:
rs80338829
Molecular consequence:
  • NM_002473.6:c.3493C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Abnormal bleeding
Identifiers:
MedGen: C1458140; Human Phenotype Ontology: HP:0001892
Name:
Thrombocytopenia
Identifiers:
MONDO: MONDO:0002049; MeSH: D013921; MedGen: C0040034; Human Phenotype Ontology: HP:0001873

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001450913Birmingham Platelet Group; University of Birmingham
no assertion criteria provided
Pathogenic
(May 1, 2020) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Birmingham Platelet Group; University of Birmingham, SCV001450913.1

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

Last Updated: Nov 10, 2024