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NM_053025.4(MYLK):c.5114+8G>A AND not provided

Germline classification:
Likely benign (4 submissions)
Last evaluated:
Aug 1, 2024
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:
RCV000762379.27

Allele description [Variation Report for NM_053025.4(MYLK):c.5114+8G>A]

NM_053025.4(MYLK):c.5114+8G>A

Genes:
LOC126806791:MED14-independent group 3 enhancer GRCh37_chr3:123347871-123349070 [Gene]
MYLK-AS1:MYLK antisense RNA 1 [Gene - HGNC]
MYLK:myosin light chain kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.1
Genomic location:
Preferred name:
NM_053025.4(MYLK):c.5114+8G>A
HGVS:
  • NC_000003.12:g.123629466C>T
  • NG_029111.1:g.259837G>A
  • NM_001321309.2:c.4586+8G>A
  • NM_053025.4:c.5114+8G>AMANE SELECT
  • NM_053026.4:c.4907+8G>A
  • NM_053027.4:c.4962-2525G>A
  • NM_053028.4:c.4755-2525G>A
  • NC_000003.11:g.123348313C>T
  • NM_053025.3:c.5114+8G>A
Links:
dbSNP: rs202229368
NCBI 1000 Genomes Browser:
rs202229368
Molecular consequence:
  • NM_001321309.2:c.4586+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_053025.4:c.5114+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_053026.4:c.4907+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_053027.4:c.4962-2525G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_053028.4:c.4755-2525G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000892691CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Aug 1, 2024)
germlineclinical testing

Citation Link,

SCV001808524Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus
no assertion criteria provided
Likely benigngermlineclinical testing

SCV001928692Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

SCV001974044Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000892691.28

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided

Description

MYLK: BP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001808524.1

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001928692.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001974044.1

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

Last Updated: Oct 20, 2024