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NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Apr 7, 2020)
Last evaluated:
Jul 22, 2019
Accession:
VCV000916897.2
Variation ID:
916897
Description:
single nucleotide variant
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NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr)

Allele ID
905213
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q24.22
Genomic location
8: 133256826 (GRCh38) GRCh38 UCSC
8: 134269069 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.134269069A>G
NC_000008.11:g.133256826A>G
NG_007943.1:g.45430T>C
... more HGVS
Protein change
I163T, I82T, I97T
Other names
-
Canonical SPDI
NC_000008.11:133256825:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs748782766
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 - RCV001173033.1
Uncertain significance 1 criteria provided, single submitter Jul 22, 2019 RCV001243503.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NDRG1 - - GRCh38
GRCh37
449 499

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001336108.1
Submitted: (Apr 07, 2020)
Evidence details
Uncertain significance
(Jul 22, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 4
Allele origin: germline
Invitae
Accession: SCV001416669.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces isoleucine with threonine at codon 163 of the NDRG1 protein (p.Ile163Thr). The isoleucine residue is moderately conserved and there is a … (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 rs748782766...

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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 Nov 27, 2021