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NM_020461.4(TUBGCP6):c.3898C>T (p.His1300Tyr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 8, 2020
Accession:
VCV000437146.3
Variation ID:
437146
Description:
single nucleotide variant
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NM_020461.4(TUBGCP6):c.3898C>T (p.His1300Tyr)

Allele ID
430573
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50220461 (GRCh38) GRCh38 UCSC
22: 50658890 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.50658890G>A
NC_000022.11:g.50220461G>A
NM_020461.4:c.3898C>T MANE Select NP_065194.3:p.His1300Tyr missense
NG_032160.1:g.29511C>T
Protein change
H1300Y
Other names
-
Canonical SPDI
NC_000022.11:50220460:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00057
1000 Genomes Project 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00046
Trans-Omics for Precision Medicine (TOPMed) 0.00033
Links
ClinGen: CA10307790
dbSNP: rs148601529
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 Oct 13, 2016 RCV000503044.1
Uncertain significance 1 criteria provided, single submitter Oct 8, 2020 RCV001071558.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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 13, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000597749.1
Submitted: (Jul 05, 2017)
Evidence details
Uncertain significance
(Oct 08, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001236867.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces histidine with tyrosine at codon 1300 of the TUBGCP6 protein (p.His1300Tyr). The histidine residue is weakly 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 rs148601529...

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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 May 27, 2021