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NM_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 2, 2021)
Last evaluated:
Feb 16, 2021
Accession:
VCV000809385.11
Variation ID:
809385
Description:
single nucleotide variant
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NM_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro)

Allele ID
798120
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50243871 (GRCh38) GRCh38 UCSC
22: 50682300 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.50682300A>G
NC_000022.11:g.50243871A>G
NG_029758.1:g.12535T>C
... more HGVS
Protein change
S197P
Other names
-
Canonical SPDI
NC_000022.11:50243870:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00097
The Genome Aggregation Database (gnomAD), exomes 0.00085
The Genome Aggregation Database (gnomAD) 0.00089
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00123
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00131
Links
dbSNP: rs138586345
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Feb 16, 2021 RCV000997946.6
not provided 1 no assertion provided - RCV001535501.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TUBGCP6 - - GRCh38
GRCh37
769 901

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 19, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001232598.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces serine with proline at codon 197 of the TUBGCP6 protein (p.Ser197Pro). The serine residue is weakly conserved and there is a … (more)
Uncertain significance
(Feb 16, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001824027.1
Submitted: (Sep 02, 2021)
Evidence details
Comment:
Observed with a nonsense variant on the opposite allele (in trans) in a patient with lissencephaly, generalized tonic clonic seizures, myoclonic seizures, and moderate intellectual … (more)
Uncertain significance
(Dec 01, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001153722.7
Submitted: (Jul 04, 2021)
Evidence details
not provided
(-)
no assertion provided
Method: phenotyping only
Microcephaly and chorioretinopathy, autosomal recessive, 1
Allele origin: unknown
GenomeConnect - Invitae Patient Insights Network
Accession: SCV001749454.1
Submitted: (Apr 26, 2021)
Evidence details
Comment:
Variant interpreted as Uncertain significance and reported on 11-05-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided … (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 rs138586345...

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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 Oct 07, 2021