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NM_020461.4(TUBGCP6):c.2968G>A (p.Gly990Arg)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Sep 13, 2019)
Accession:
VCV000694005.2
Variation ID:
694005
Description:
single nucleotide variant
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NM_020461.4(TUBGCP6):c.2968G>A (p.Gly990Arg)

Allele ID
681833
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50221391 (GRCh38) GRCh38 UCSC
22: 50659820 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.50659820C>T
NC_000022.11:g.50221391C>T
NG_032160.1:g.28581G>A
NM_020461.4:c.2968G>A MANE Select NP_065194.3:p.Gly990Arg missense
Protein change
G990R
Other names
-
Canonical SPDI
NC_000022.11:50221390:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1602510452
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided - RCV001007659.2
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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
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Microcephaly and chorioretinopathy, autosomal recessive, 1
Allele origin: maternal
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles
Accession: SCV000998521.1
Submitted: (Sep 13, 2019)
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 rs1602510452...

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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 Sep 29, 2021