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NM_144573.4(NEXN):c.166_169del (p.Arg56fs) AND Cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 16, 2016
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:
RCV000768796.2

Allele description [Variation Report for NM_144573.4(NEXN):c.166_169del (p.Arg56fs)]

NM_144573.4(NEXN):c.166_169del (p.Arg56fs)

Gene:
NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_144573.4(NEXN):c.166_169del (p.Arg56fs)
HGVS:
  • NC_000001.11:g.77917704_77917707del
  • NG_016625.1:g.34190_34193del
  • NM_001172309.2:c.28-256_28-253del
  • NM_144573.4:c.166_169delMANE SELECT
  • NP_653174.3:p.Arg56fs
  • NP_653174.3:p.Arg56fs
  • LRG_442t1:c.166_169del
  • LRG_442:g.34190_34193del
  • LRG_442p1:p.Arg56fs
  • NC_000001.10:g.78383387_78383390del
  • NC_000001.10:g.78383389_78383392del
  • NM_144573.3:c.166_169del
Protein change:
R56fs
Links:
dbSNP: rs765396527
NCBI 1000 Genomes Browser:
rs765396527
Molecular consequence:
  • NM_144573.4:c.166_169del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001172309.2:c.28-256_28-253del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000900168CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 16, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000900168.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024