NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Apr 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:
RCV000222980.1

Allele description [Variation Report for NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly)]

NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly)

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.1415C>G (p.Ala472Gly)
HGVS:
  • NC_000001.11:g.77935986C>G
  • NG_016625.1:g.52472C>G
  • NM_001172309.1:c.1223C>G
  • NM_144573.3:c.1415C>G
  • NM_144573.4:c.1415C>GMANE SELECT
  • NP_001165780.1:p.Ala408Gly
  • NP_653174.3:p.Ala472Gly
  • NP_653174.3:p.Ala472Gly
  • LRG_442t1:c.1415C>G
  • LRG_442:g.52472C>G
  • LRG_442p1:p.Ala472Gly
  • NC_000001.10:g.78401671C>G
Protein change:
A408G
Links:
dbSNP: rs539665448
NCBI 1000 Genomes Browser:
rs539665448
Molecular consequence:
  • NM_001172309.1:c.1223C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144573.3:c.1415C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144573.4:c.1415C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000272210Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Apr 1, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided41not 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, SCV000272210.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (1)

Description

The p.Ala472Gly variant in NEXN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/11546 of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Comput ational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ala472Gly variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided4not provided1not provided

Last Updated: Jul 7, 2021

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