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NM_000258.3(MYL3):c.433A>G (p.Asn145Asp) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 21, 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:
RCV003339615.2

Allele description [Variation Report for NM_000258.3(MYL3):c.433A>G (p.Asn145Asp)]

NM_000258.3(MYL3):c.433A>G (p.Asn145Asp)

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.433A>G (p.Asn145Asp)
HGVS:
  • NC_000003.12:g.46859523T>C
  • NG_007555.2:g.27647A>G
  • NM_000258.3:c.433A>GMANE SELECT
  • NP_000249.1:p.Asn145Asp
  • LRG_395t1:c.433A>G
  • LRG_395:g.27647A>G
  • NC_000003.11:g.46901013T>C
  • NM_000258.2:c.433A>G
  • p.Asn145Asp
Protein change:
N145D
Links:
dbSNP: rs1204710752
NCBI 1000 Genomes Browser:
rs1204710752
Molecular consequence:
  • NM_000258.3:c.433A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004059312Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 21, 2023) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.

Harper AR, Goel A, Grace C, Thomson KL, Petersen SE, Xu X, Waring A, Ormondroyd E, Kramer CM, Ho CY, Neubauer S; HCMR Investigators., Tadros R, Ware JS, Bezzina CR, Farrall M, Watkins H.

Nat Genet. 2021 Feb;53(2):135-142. doi: 10.1038/s41588-020-00764-0. Epub 2021 Jan 25.

PubMed [citation]
PMID:
33495597
PMCID:
PMC8240954

Details of each submission

From Ambry Genetics, SCV004059312.2

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

Description

The p.N145D variant (also known as c.433A>G), located in coding exon 4 of the MYL3 gene, results from an A to G substitution at nucleotide position 433. The asparagine at codon 145 is replaced by aspartic acid, an amino acid with highly similar properties. This variant has been detected in a hypertrophic cardiomyopathy cohort; however, details were limited (Harper AR et al. Nat Genet, 2021 Feb;53:135-142). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024