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NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del) AND Dilated cardiomyopathy 1CC

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 9, 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:
RCV000240639.2

Allele description [Variation Report for NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)]

NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)

Gene:
NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)
HGVS:
  • NC_000001.11:g.77935972AGA[2]
  • NC_000001.11:g.77935976_77935978del
  • NG_016625.1:g.52458AGA[2]
  • NM_001172309.2:c.1209AGA[2]
  • NM_144573.4:c.1401AGA[2]MANE SELECT
  • NM_144573.4:c.1407_1409delAGA
  • NP_001165780.1:p.Glu406del
  • NP_653174.3:p.Glu470del
  • LRG_442t1:c.1407_1409del
  • LRG_442:g.52458AGA[2]
  • NC_000001.10:g.78401657AGA[2]
  • NC_000001.10:g.78401657_78401659del
  • NM_144573.3:c.1405_1407delGAA
  • NM_144573.3:c.1407_1409del
  • NM_144573.3:c.1407_1409delAGA
  • NM_144573.4:c.1407_1409delMANE SELECT
  • NM_144573.4:c.1407_1409delAGAMANE SELECT
  • c.1407_1409delAGA
Protein change:
E406del
Links:
dbSNP: rs397517846
NCBI 1000 Genomes Browser:
rs397517846
Molecular consequence:
  • NM_001172309.2:c.1209AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_144573.4:c.1401AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Dilated cardiomyopathy 1CC (CMD1CC)
Identifiers:
MONDO: MONDO:0013147; MedGen: C2751084; Orphanet: 154; OMIM: 613122

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000299267Center for Medical Genetics Ghent, University of Ghent
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 9, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Center for Medical Genetics Ghent, University of Ghent, SCV000299267.2

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

Description

This variant has not been identified in large population databases (Gnomad, 1000 Genomes, Go NL, Exome Variant Server). The variant results in an inframe deletion of one amino acid and thus reduces the length of the protein.

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

Last Updated: Sep 29, 2024