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NM_144573.3(NEXN):c.65A>G (p.Tyr22Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 21, 2016)
Last evaluated:
Dec 2, 2016
Accession:
VCV000373625.1
Variation ID:
373625
Description:
single nucleotide variant
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NM_144573.3(NEXN):c.65A>G (p.Tyr22Cys)

Allele ID
359367
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 77917603 (GRCh38) GRCh38 UCSC
1: 78383288 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.77917603A>G
NC_000001.10:g.78383288A>G
NM_144573.3:c.65A>G NP_653174.3:p.Tyr22Cys missense
... more HGVS
Protein change
Y22C
Other names
-
Canonical SPDI
NC_000001.11:77917602:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA16042401
dbSNP: rs1057518512
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 2, 2016 RCV000414636.1
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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
Uncertain significance
(Dec 02, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000492238.1
Submitted: (Dec 21, 2016)
Evidence details
Comment:
A novel variant of uncertain significance has been identified in the NEXN gene. The Y22C variant has not been published as a pathogenic variant, nor … (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 rs1057518512...

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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 Feb 27, 2021