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NM_000258.3(MYL3):c.219C>T (p.Tyr73=) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 7, 2022
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:
RCV002429310.1

Allele description

NM_000258.3(MYL3):c.219C>T (p.Tyr73=)

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.219C>T (p.Tyr73=)
HGVS:
  • NC_000003.12:g.46860764G>A
  • NG_007555.2:g.26406C>T
  • NM_000258.3:c.219C>TMANE SELECT
  • NP_000249.1:p.Tyr73=
  • NP_000249.1:p.Tyr73=
  • LRG_395t1:c.219C>T
  • LRG_395:g.26406C>T
  • LRG_395p1:p.Tyr73=
  • NC_000003.11:g.46902254G>A
  • NM_000258.2:c.219C>T
Links:
dbSNP: rs780500137
NCBI 1000 Genomes Browser:
rs780500137
Molecular consequence:
  • NM_000258.3:c.219C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002728109Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Benign
(Jan 7, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.

Yadav S, Sitbon YH, Kazmierczak K, Szczesna-Cordary D.

Pflugers Arch. 2019 May;471(5):683-699. doi: 10.1007/s00424-019-02257-4. Epub 2019 Jan 31. Review.

PubMed [citation]
PMID:
30706179
PMCID:
PMC6476665

Details of each submission

From Ambry Genetics, SCV002728109.1

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

Description

This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024