NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 2, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000183662.4

Allele description [Variation Report for NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile)]

NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile)

Gene:
NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile)
Other names:
p.T424I:ACC>ATC
HGVS:
  • NC_000001.11:g.77935842C>T
  • NG_016625.1:g.52328C>T
  • NM_001172309.2:c.1079C>T
  • NM_144573.4:c.1271C>TMANE SELECT
  • NP_001165780.1:p.Thr360Ile
  • NP_653174.3:p.Thr424Ile
  • NP_653174.3:p.Thr424Ile
  • LRG_442t1:c.1271C>T
  • LRG_442:g.52328C>T
  • LRG_442p1:p.Thr424Ile
  • NC_000001.10:g.78401527C>T
  • NM_144573.3:c.1271C>T
Protein change:
T360I
Links:
dbSNP: rs200442502
NCBI 1000 Genomes Browser:
rs200442502
Molecular consequence:
  • NM_001172309.2:c.1079C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144573.4:c.1271C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000236131GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 2, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000236131.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance but additional evidence is not available (ClinVar Variant ID# 201924; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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

Last Updated: Dec 4, 2021

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