NM_000432.3(MYL2):c.52T>C (p.Phe18Leu) AND Cardiovascular phenotype

Clinical significance:Likely pathogenic (Last evaluated: Nov 17, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000246859.1

Allele description

NM_000432.3(MYL2):c.52T>C (p.Phe18Leu)

Gene:
MYL2:myosin light chain 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_000432.3(MYL2):c.52T>C (p.Phe18Leu)
HGVS:
  • NC_000012.12:g.110919145A>G
  • NG_007554.1:g.6433T>C
  • NM_000432.3:c.52T>C
  • NP_000423.2:p.Phe18Leu
  • LRG_393t1:c.52T>C
  • LRG_393:g.6433T>C
  • LRG_393p1:p.Phe18Leu
  • NC_000012.11:g.111356949A>G
  • P10916:p.Phe18Leu
  • p.(Phe18Leu)
Protein change:
F18L; PHE18LEU
Links:
Leiden Muscular Dystrophy (MYL2): MYL2_00002; UniProtKB: P10916#VAR_004602; OMIM: 160781.0005; dbSNP: rs104894370
NCBI 1000 Genomes Browser:
rs104894370
Molecular consequence:
  • NM_000432.3:c.52T>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
probably has functional consequence
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000320547Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(Nov 17, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000320547.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2017

Support Center