NM_144573.4(NEXN):c.864+12T>A AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: May 22, 2014)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000041185.5

Allele description [Variation Report for NM_144573.4(NEXN):c.864+12T>A]

NM_144573.4(NEXN):c.864+12T>A

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.864+12T>A
HGVS:
  • NC_000001.11:g.77926904T>A
  • NG_016625.1:g.43390T>A
  • NM_001172309.1:c.672+12T>A
  • NM_144573.3:c.864+12T>A
  • NM_144573.4:c.864+12T>AMANE SELECT
  • LRG_442t1:c.864+12T>A
  • LRG_442:g.43390T>A
  • NC_000001.10:g.78392589T>A
  • c.864+12T>A
Links:
dbSNP: rs188416492
NCBI 1000 Genomes Browser:
rs188416492
Molecular consequence:
  • NM_001172309.1:c.672+12T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_144573.3:c.864+12T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_144573.4:c.864+12T>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
11

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
SCV000064876Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Mar 19, 2012)
germlineclinical testing

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

SCV000170746GeneDxcriteria provided, single submitter
Benign
(May 22, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1111not providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot 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, SCV000064876.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided11not providednot providedclinical testing PubMed (1)

Description

c.864+12T>A in intron 8 of NEXN: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. It h as been identified in 0.2% (13/6568) of European American chromosomes from a bro ad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided11not provided11not provided

From GeneDx, SCV000170746.11

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 6, 2021

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