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NM_144573.4(NEXN):c.298+10T>C

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 21, 2019)
Last evaluated:
Mar 20, 2012
Accession:
VCV000047902.2
Variation ID:
47902
Description:
single nucleotide variant
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NM_144573.4(NEXN):c.298+10T>C

Allele ID
57066
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 77918048 (GRCh38) GRCh38 UCSC
1: 78383733 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.78383733T>C
NC_000001.11:g.77918048T>C
NM_144573.4:c.298+10T>C MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:77918047:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA142151
dbSNP: rs397517854
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Mar 20, 2012 RCV000041173.2
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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
357 379

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Mar 20, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064864.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
298+10T>C in intron 4 of NEXN: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus … (more)

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 rs397517854...

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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 Jul 07, 2021