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NM_020461.4(TUBGCP6):c.5285C>T (p.Pro1762Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jul 4, 2021)
Last evaluated:
Nov 25, 2020
Accession:
VCV000212516.12
Variation ID:
212516
Description:
single nucleotide variant
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NM_020461.4(TUBGCP6):c.5285C>T (p.Pro1762Leu)

Allele ID
208802
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50218001 (GRCh38) GRCh38 UCSC
22: 50656430 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.50656430G>A
NC_000022.11:g.50218001G>A
NG_032160.1:g.31971C>T
NM_020461.4:c.5285C>T MANE Select NP_065194.3:p.Pro1762Leu missense
Protein change
P1762L
Other names
-
Canonical SPDI
NC_000022.11:50218000:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00056
1000 Genomes Project 0.00160
Exome Aggregation Consortium (ExAC) 0.00052
The Genome Aggregation Database (gnomAD) 0.00026
Trans-Omics for Precision Medicine (TOPMed) 0.00061
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA206250
dbSNP: rs201721812
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 Feb 19, 2015 RCV000193028.1
Likely benign 1 criteria provided, single submitter Sep 13, 2018 RCV001270042.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 25, 2020 RCV000905127.5

Clinical features observed in individuals with this variant

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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
(Feb 19, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000249326.1
Submitted: (Sep 15, 2015)
Evidence details
Likely benign
(Sep 13, 2018)
criteria provided, single submitter
Method: clinical testing
Microcephaly and chorioretinopathy, autosomal recessive, 1
Allele origin: germline
Knight Diagnostic Laboratories, Oregon Health and Sciences University
Accession: SCV001448770.1
Submitted: (Sep 02, 2020)
Evidence details
Likely benign
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001049693.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jun 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001153718.7
Submitted: (Jul 04, 2021)
Evidence details

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 rs201721812...

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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