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NM_020699.4(GATAD2B):c.1469C>T (p.Ala490Val)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 18, 2021)
Last evaluated:
Nov 24, 2020
Accession:
VCV000211066.7
Variation ID:
211066
Description:
single nucleotide variant
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NM_020699.4(GATAD2B):c.1469C>T (p.Ala490Val)

Allele ID
206720
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q21.3
Genomic location
1: 153812083 (GRCh38) GRCh38 UCSC
1: 153784559 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.153784559G>A
NC_000001.11:g.153812083G>A
NG_050988.1:g.115893C>T
NM_020699.4:c.1469C>T MANE Select NP_065750.1:p.Ala490Val missense
Protein change
A490V
Other names
-
Canonical SPDI
NC_000001.11:153812082:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00220 (A)

Allele frequency
1000 Genomes Project 0.00220
The Genome Aggregation Database (gnomAD) 0.00335
Exome Aggregation Consortium (ExAC) 0.00521
The Genome Aggregation Database (gnomAD), exomes 0.00464
Trans-Omics for Precision Medicine (TOPMed) 0.00491
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00569
Links
ClinGen: CA209126
dbSNP: rs145131801
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Nov 24, 2020 RCV000444250.7
Benign 1 criteria provided, single submitter May 8, 2014 RCV000194748.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GATAD2B Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
133 150

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 08, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000247457.1
Submitted: (Sep 15, 2015)
Evidence details
Likely Benign
(Jan 26, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000511021.1
Submitted: (Feb 17, 2017)
Evidence details
Comment:
Converted during submission to Likely benign.
Benign
(Nov 24, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001029331.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Dec 05, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001895870.1
Submitted: (Sep 18, 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 rs145131801...

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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