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NM_016599.5(MYOZ2):c.447A>T (p.Gln149His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 12, 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:
RCV000039008.7

Allele description [Variation Report for NM_016599.5(MYOZ2):c.447A>T (p.Gln149His)]

NM_016599.5(MYOZ2):c.447A>T (p.Gln149His)

Gene:
MYOZ2:myozenin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_016599.5(MYOZ2):c.447A>T (p.Gln149His)
Other names:
p.Q149H:CAA>CAT
HGVS:
  • NC_000004.12:g.119164281A>T
  • NG_029747.1:g.33498A>T
  • NM_016599.5:c.447A>TMANE SELECT
  • NP_057683.1:p.Gln149His
  • NP_057683.1:p.Gln149His
  • LRG_396t1:c.447A>T
  • LRG_396:g.33498A>T
  • LRG_396p1:p.Gln149His
  • NC_000004.11:g.120085436A>T
  • NM_016599.3:c.447A>T
  • NM_016599.4:c.447A>T
  • c.447A>T
Protein change:
Q149H
Links:
dbSNP: rs200077093
NCBI 1000 Genomes Browser:
rs200077093
Molecular consequence:
  • NM_016599.5:c.447A>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
SCV000062686Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Jun 12, 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, SCV000062686.6

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

Description

Variant classified as Uncertain Significance - Favor Benign. The Gln149His varia nt in MYOZ2 has been identified in 1 individual with DCM (LMM unpublished data) and has also been identified in 1/1316 European chromosomes by the ClinSeq proje ct (dbSNP rs200077093). Computational analyses (biochemical amino acid propertie s, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support f or or against an impact to the protein, though 2 fish species carry a histidine (His; this variant) at this position, raising the possibility that it may be tol erated. However, additional studies are needed to fully assess its clinical sign ificance.

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

Last Updated: Sep 29, 2024