Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_152743.4(BRAT1):c.1768C>T (p.Gln590Ter)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 27, 2020
Accession:
VCV001070797.1
Variation ID:
1070797
Description:
single nucleotide variant
Help

NM_152743.4(BRAT1):c.1768C>T (p.Gln590Ter)

Allele ID
1061073
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p22.3
Genomic location
7: 2539181 (GRCh38) GRCh38 UCSC
7: 2578815 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.2578815G>A
NC_000007.14:g.2539181G>A
NM_152743.4:c.1768C>T MANE Select NP_689956.2:p.Gln590Ter nonsense
... more HGVS
Protein change
Q415*, Q590*
Other names
-
Canonical SPDI
NC_000007.14:2539180:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jan 27, 2020 RCV001383083.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 27, 2020)
criteria provided, single submitter
Method: clinical testing
Rigidity and multifocal seizure syndrome, lethal neonatal
Allele origin: germline
Invitae
Accession: SCV001582104.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change results in a premature translational stop signal in the BRAT1 gene (p.Gln590*). While this is not anticipated to result in nonsense mediated … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants. Reuter MS CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2018 PMID: 29431110
BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings. Smith NJ American journal of medical genetics. Part A 2016 PMID: 27480663

Record last updated May 13, 2021