NM_144573.4(NEXN):c.1753AAG[1] (p.Lys586del) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Jul 24, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000795836.1

Allele description [Variation Report for NM_144573.4(NEXN):c.1753AAG[1] (p.Lys586del)]

NM_144573.4(NEXN):c.1753AAG[1] (p.Lys586del)

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.1753AAG[1] (p.Lys586del)
HGVS:
  • NC_000001.11:g.77942554AAG[1]
  • NG_016625.1:g.59040AAG[1]
  • NG_033243.2:g.41535CTT[1]
  • NM_001172309.2:c.1561AAG[1]
  • NM_144573.4:c.1753AAG[1]MANE SELECT
  • NP_001165780.1:p.Lys522del
  • NP_653174.3:p.Lys586del
  • LRG_442:g.59040AAG[1]
  • LRG_995:g.41535CTT[1]
  • NC_000001.10:g.78408239AAG[1]
  • NC_000001.10:g.78408242_78408244delAAG
  • NM_144573.3:c.1756_1758delAAG
  • c.1756_1758delAAG
Protein change:
K522del
Links:
dbSNP: rs397517851
NCBI 1000 Genomes Browser:
rs397517851
Molecular consequence:
  • NM_001172309.2:c.1561AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_144573.4:c.1753AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Dilated cardiomyopathy 1CC (CMD1CC)
Identifiers:
MONDO: MONDO:0013147; MedGen: C2751084; Orphanet: 154; OMIM: 613122
Name:
Familial hypertrophic cardiomyopathy 20 (CMH20)
Synonyms:
Hypertrophic cardiomyopathy 20
Identifiers:
MONDO: MONDO:0013477; MedGen: C3151267; OMIM: 613876

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000935314Invitaecriteria provided, single submitter
Uncertain significance
(Jul 24, 2018)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000935314.1

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

Description

This variant, c.1756_1758delAAG, results in the deletion of 1 amino acid of the NEXN protein (p.Lys586del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs771017447, ExAC 0.003%). This variant has been observed in an individual affected with dilated cardiomyopathy (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 47896). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Jul 7, 2021

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