NM_144573.3(NEXN):c.1606_1607del (p.Lys536fs) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Jul 30, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001307654.1

Allele description [Variation Report for NM_144573.3(NEXN):c.1606_1607del (p.Lys536fs)]

NM_144573.3(NEXN):c.1606_1607del (p.Lys536fs)

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.1606_1607del (p.Lys536fs)
HGVS:
  • NC_000001.11:g.77942155_77942156del
  • NG_016625.1:g.58641_58642del
  • NG_033243.2:g.41940_41941del
  • NM_001172309.1:c.1414_1415del
  • NM_144573.3:c.1606_1607del
  • NP_001165780.1:p.Lys472fs
  • NP_653174.3:p.Lys536fs
  • LRG_442t1:c.1606_1607del
  • LRG_442:g.58641_58642del
  • LRG_442p1:p.Lys536fs
  • LRG_995:g.41940_41941del
  • NC_000001.10:g.78407838_78407839del
  • NC_000001.10:g.78407840_78407841del
  • NM_144573.3:c.1606_1607delAA
Protein change:
K472fs
Links:
dbSNP: rs1394704286
NCBI 1000 Genomes Browser:
rs1394704286
Molecular consequence:
  • NM_001172309.1:c.1414_1415del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144573.3:c.1606_1607del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001497075Invitaecriteria provided, single submitter
Uncertain significance
(Jul 30, 2020)
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, SCV001497075.1

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

Description

This sequence change results in a premature translational stop signal in the NEXN gene (p.Lys536Valfs*7). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 140 amino acids of the NEXN protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NEXN-related conditions. ClinVar contains an entry for this variant (Variation ID: 632116). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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: Oct 7, 2021

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