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NM_033118.4(MYLK2):c.157G>A (p.Asp53Asn) AND not specified

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Nov 30, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV003235285.2

Allele description [Variation Report for NM_033118.4(MYLK2):c.157G>A (p.Asp53Asn)]

NM_033118.4(MYLK2):c.157G>A (p.Asp53Asn)

Gene:
MYLK2:myosin light chain kinase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q11.21
Genomic location:
Preferred name:
NM_033118.4(MYLK2):c.157G>A (p.Asp53Asn)
HGVS:
  • NC_000020.11:g.31820230G>A
  • NG_012847.1:g.5856G>A
  • NM_033118.4:c.157G>AMANE SELECT
  • NP_149109.1:p.Asp53Asn
  • NP_149109.1:p.Asp53Asn
  • LRG_392t1:c.157G>A
  • LRG_392:g.5856G>A
  • LRG_392p1:p.Asp53Asn
  • NC_000020.10:g.30408033G>A
  • NM_033118.3:c.157G>A
Protein change:
D53N
Links:
dbSNP: rs200204126
NCBI 1000 Genomes Browser:
rs200204126
Molecular consequence:
  • NM_033118.4:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002709512Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 30, 2023) 		germlineclinical testing

Citation Link,

SCV003934061Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(May 8, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002709512.2

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

Description

The p.D53N variant (also known as c.157G>A), located in coding exon 2 of the MYLK2 gene, results from a G to A substitution at nucleotide position 157. The aspartic acid at codon 53 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. 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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003934061.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024