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

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 2, 2021)
Last evaluated:
May 22, 2014
Accession:
VCV000047913.5
Variation ID:
47913
Description:
single nucleotide variant
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NM_144573.4(NEXN):c.864+12T>A

Allele ID
57077
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 77926904 (GRCh38) GRCh38 UCSC
1: 78392589 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_144573.3:c.864+12T>A
NC_000001.10:g.78392589T>A
NC_000001.11:g.77926904T>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:77926903:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (A)

Allele frequency
1000 Genomes Project 0.00080
The Genome Aggregation Database (gnomAD) 0.00124
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00110
Exome Aggregation Consortium (ExAC) 0.00122
The Genome Aggregation Database (gnomAD), exomes 0.00137
Trans-Omics for Precision Medicine (TOPMed) 0.00151
Links
ClinGen: CA142174
dbSNP: rs188416492
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts May 22, 2014 RCV000041185.5
Likely benign 1 no assertion criteria provided - RCV001529294.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NEXN - - GRCh38
GRCh37
345 366

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 22, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000170746.11
Submitted: (Mar 26, 2018)
Evidence details
Comment:
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 … (more)
Likely benign
(Mar 19, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064876.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
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 … (more)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001742499.3
Submitted: (Sep 02, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs188416492...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 07, 2021