NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Feb 10, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000041160.4

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
  • 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
  • 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]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000064851Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Feb 10, 2015)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided33not providednot providednot providedclinical testing

Citations

PubMed

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH.

Genet Med. 2014 Aug;16(8):601-8. doi: 10.1038/gim.2013.204. Epub 2014 Feb 6.

PubMed [citation]
PMID:
24503780

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000064851.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (2)

Description

The p.Glu470del variant in NEXN has been identified by our laboratory in 1 infan t with DCM, 1 adult with LVNC (Pugh 2014), and 1 adult with HCM who carried a pa thogenic variant in another gene that was sufficient to explain the disease. Thi s variant has also been identified in 4/16472 of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3975 17846). This variant is a deletion of a single amino acid at position 470 and do es not alter the protein reading-frame. It is unclear if this deletion will impa ct protein function. In summary, the clinical significance of the p.Glu470del va riant is uncertain.

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

Last Updated: Oct 6, 2021

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