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NM_152743.4(BRAT1):c.282+9G>A

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 22, 2020
Accession:
VCV000472966.4
Variation ID:
472966
Description:
single nucleotide variant
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NM_152743.4(BRAT1):c.282+9G>A

Allele ID
457724
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p22.3
Genomic location
7: 2547315 (GRCh38) GRCh38 UCSC
7: 2586949 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.14:g.2547315C>T
NC_000007.13:g.2586949C>T
NM_152743.4:c.282+9G>A MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:2547314:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (T)

Allele frequency
1000 Genomes Project 0.00100
Exome Aggregation Consortium (ExAC) 0.00037
The Genome Aggregation Database (gnomAD), exomes 0.00028
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00092
Trans-Omics for Precision Medicine (TOPMed) 0.00101
The Genome Aggregation Database (gnomAD) 0.00092
Links
ClinGen: CA4128265
dbSNP: rs192133446
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Oct 22, 2020 RCV000544051.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRAT1 - - GRCh38
GRCh37
655 715

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Oct 22, 2020)
criteria provided, single submitter
Method: clinical testing
Rigidity and multifocal seizure syndrome, lethal neonatal
Allele origin: germline
Invitae
Accession: SCV000652261.5
Submitted: (Jan 07, 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 rs192133446...

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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 Jun 14, 2021