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NM_144573.4(NEXN):c.1773A>G (p.Thr591=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 21, 2019)
Last evaluated:
Sep 12, 2014
Accession:
VCV000164796.2
Variation ID:
164796
Description:
single nucleotide variant
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NM_144573.4(NEXN):c.1773A>G (p.Thr591=)

Allele ID
172603
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 77942574 (GRCh38) GRCh38 UCSC
1: 78408259 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.78408259A>G
NC_000001.11:g.77942574A>G
NM_144573.4:c.1773A>G MANE Select NP_653174.3:p.Thr591= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:77942573:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA177492
dbSNP: rs727503345
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 Sep 12, 2014 RCV000151562.1
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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
Likely benign
(Sep 12, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000199708.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Thr591Thr in exon 13 of NEXN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue … (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 rs727503345...

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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