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NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 21, 2013
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:
RCV000151318.4

Allele description [Variation Report for NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp)]

NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp)

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.5806C>T (p.Arg1936Trp)
HGVS:
  • NC_000022.11:g.36282745G>A
  • NG_011884.2:g.110274C>T
  • NM_002473.6:c.5806C>TMANE SELECT
  • NP_002464.1:p.Arg1936Trp
  • LRG_567t1:c.5806C>T
  • LRG_567:g.110274C>T
  • NC_000022.10:g.36678791G>A
  • NM_002473.4:c.5806C>T
  • NM_002473.5:c.5806C>T
Protein change:
R1936W
Links:
dbSNP: rs727503281
NCBI 1000 Genomes Browser:
rs727503281
Molecular consequence:
  • NM_002473.6:c.5806C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000199283Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Jun 21, 2013) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000199283.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Benign. The Arg1936Trp vari ant in MYH9 has not been reported in the literature or in large population studi es. The arginine (Arg) residue at position 1936 is not conserved across species , with sloth having a Trp. Although additional information is needed to fully as sess the clinical significance of this variant; the lack of conservation suggest s a more likely benign role.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Oct 13, 2024