NM_144573.3(NEXN):c.1820_1822del (p.Gly607del) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Oct 1, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000220963.3

Allele description [Variation Report for NM_144573.3(NEXN):c.1820_1822del (p.Gly607del)]

NM_144573.3(NEXN):c.1820_1822del (p.Gly607del)

Gene:
NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_144573.3(NEXN):c.1820_1822del (p.Gly607del)
HGVS:
  • NC_000001.10:g.78408304_78408306del
  • NC_000001.11:g.77942621_77942623del
  • NG_016625.1:g.59107_59109del
  • NG_033243.2:g.41473_41475del
  • NM_001172309.1:c.1628_1630del
  • NM_144573.3:c.1820_1822del
  • NP_001165780.1:p.Gly543del
  • NP_653174.3:p.Gly607del
  • LRG_442t1:c.1820_1822del
  • LRG_442:g.59107_59109del
  • LRG_442p1:p.Gly607del
  • LRG_995:g.41473_41475del
  • NC_000001.10:g.78408304_78408306del
  • NC_000001.10:g.78408306_78408308del
  • NC_000001.10:g.78408306_78408308delGAG
  • NM_144573.3:c.1820_1822delGAG
Protein change:
G543del
Links:
dbSNP: rs876657928
NCBI 1000 Genomes Browser:
rs876657928
Molecular consequence:
  • NM_001172309.1:c.1628_1630del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_144573.3:c.1820_1822del - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
2

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
SCV000272212Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Oct 1, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not providednot providednot providedclinical testing

Citations

PubMed

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, SCV000272212.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

The p.Gly607del variant in NEXN has not been previously reported in individuals with cardiomyopathy but has been identified in 3/66474 European chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). This var iant is a deletion of 1 amino acid at position 607. It is unclear if this deleti on will impact the protein. In summary, the clinical significance of the p.Gly60 7del variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Jul 7, 2021

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