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NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 6, 2023
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:
RCV000497294.16

Allele description [Variation Report for NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)]

NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)

Gene:
MYL3:myosin light chain 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)
Other names:
p.E143K:GAG>AAG
HGVS:
  • NC_000003.12:g.46859529C>T
  • NG_007555.2:g.27641G>A
  • NM_000258.3:c.427G>AMANE SELECT
  • NP_000249.1:p.Glu143Lys
  • NP_000249.1:p.Glu143Lys
  • LRG_395t1:c.427G>A
  • LRG_395:g.27641G>A
  • LRG_395p1:p.Glu143Lys
  • NC_000003.11:g.46901019C>T
  • NM_000258.2:c.427G>A
  • P08590:p.Glu143Lys
  • c.427G>A
  • p.(Glu143Lys)
Protein change:
E143K; GLU143LYS
Links:
Leiden Muscular Dystrophy (MYL3): MYL3_00009; UniProtKB: P08590#VAR_019843; OMIM: 160790.0003; dbSNP: rs104893750
NCBI 1000 Genomes Browser:
rs104893750
Molecular consequence:
  • NM_000258.3:c.427G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
functional variant [Sequence Ontology: SO:0001536]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208882GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Mar 6, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000208882.16

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Identified in a patient with early onset atrial fibrillation (Afib) in published literature (Yoneda et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies demonstrated p.(E143K) may reduce cardiac myosin heavy chain binding affinity or impair cardiac contractility when present with a MYBPC3 variant, however, the clinical relevance of these functional studies has yet to be definitively determined (PMID: 22131351; 28658286); Another published functional study suggested p.(E143K) may impact functional contractility of the myosin protein (PMID: 34014247); This variant is associated with the following publications: (PMID: 21823217, 22957257, 28420666, 30297972, 25342278, 23594557, 27574918, 26443374, 21415409, 28658286, 25910212, 27532257, 28356264, 28771489, 31199839, 30706179, 28371863, 29669825, 31447099, 12021217, 35288424, 34495297, 22131351, 34014247)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024