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NM_002473.6(MYH9):c.193G>A (p.Val65Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 20, 2016
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:
RCV000610555.4

Allele description [Variation Report for NM_002473.6(MYH9):c.193G>A (p.Val65Met)]

NM_002473.6(MYH9):c.193G>A (p.Val65Met)

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.193G>A (p.Val65Met)
HGVS:
  • NC_000022.11:g.36349044C>T
  • NG_011884.2:g.43975G>A
  • NM_002473.6:c.193G>AMANE SELECT
  • NP_002464.1:p.Val65Met
  • LRG_567:g.43975G>A
  • NC_000022.10:g.36745089C>T
  • NM_002473.4:c.193G>A
Protein change:
V65M
Links:
dbSNP: rs377348805
NCBI 1000 Genomes Browser:
rs377348805
Molecular consequence:
  • NM_002473.6:c.193G>A - 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
SCV000711123Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Jun 20, 2016) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.

Vona B, Müller T, Nanda I, Neuner C, Hofrichter MA, Schröder J, Bartsch O, Läßig A, Keilmann A, Schraven S, Kraus F, Shehata-Dieler W, Haaf T.

Genet Med. 2014 Dec;16(12):945-53. doi: 10.1038/gim.2014.65. Epub 2014 May 29.

PubMed [citation]
PMID:
24875298
PMCID:
PMC4262760

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, SCV000711123.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The p.Val65Met variant in MYH9 has been previously reported in 1 individual with hearing loss (Vona 2014), but it has also been identified in 19/66730 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs377348805). Computational prediction tools and conservation analy ses suggest that this variant may not impact the protein, though this informatio n is not predictive enough to rule out pathogenicity. In summary, the clinical s ignificance of the p.Val65Met variant is uncertain.

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

Last Updated: Sep 29, 2024