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NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000509473.9

Allele description [Variation Report for NM_002473.6(MYH9):c.136C>T (p.Leu46Phe)]

NM_002473.6(MYH9):c.136C>T (p.Leu46Phe)

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.136C>T (p.Leu46Phe)
HGVS:
  • NC_000022.11:g.36349101G>A
  • NG_011884.2:g.43918C>T
  • NM_002473.6:c.136C>TMANE SELECT
  • NM_002473.6:c.136C>T
  • NP_002464.1:p.Leu46Phe
  • NP_002464.1:p.Leu46Phe
  • LRG_567t1:c.136C>T
  • LRG_567:g.43918C>T
  • LRG_567p1:p.Leu46Phe
  • NC_000022.10:g.36745146G>A
  • NM_002473.4:c.136C>T
  • NM_002473.5:c.136C>T
Protein change:
L46F
Links:
dbSNP: rs147122501
NCBI 1000 Genomes Browser:
rs147122501
Molecular consequence:
  • NM_002473.6:c.136C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Vitelliform macular dystrophy 1 (VMD1)
Synonyms:
Macular dystrophy, atypical vitelliform
Identifiers:
MONDO: MONDO:0007933; MedGen: C4551953; Orphanet: 99000; OMIM: 153840
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
Name:
Autosomal dominant nonsyndromic hearing loss 17
Synonyms:
Deafness, autosomal dominant nonsyndromic sensorineural 17; Nonsyndromic hereditary deafness DFNA17; Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011350; MedGen: C1863659; Orphanet: 90635; OMIM: 603622

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000607103GenomeConnect, ClinGen
no classification provided
not providedmaternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000607103.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalunknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Apr 15, 2024