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NM_152743.4(BRAT1):c.1492del (p.Leu498fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 2, 2019
Accession:
VCV000848367.2
Variation ID:
848367
Description:
1bp deletion
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NM_152743.4(BRAT1):c.1492del (p.Leu498fs)

Allele ID
833518
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
7p22.3
Genomic location
7: 2539792 (GRCh38) GRCh38 UCSC
7: 2579426 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.2579427del
NC_000007.14:g.2539793del
NM_152743.4:c.1492del MANE Select NP_689956.2:p.Leu498fs frameshift
... more HGVS
Protein change
L498fs, L323fs
Other names
-
Canonical SPDI
NC_000007.14:2539791:GG:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Feb 2, 2019 RCV001052109.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Pathogenic
(Feb 02, 2019)
criteria provided, single submitter
Method: clinical testing
Rigidity and multifocal seizure syndrome, lethal neonatal
Allele origin: germline
Invitae
Accession: SCV001216303.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Leu498Serfs*19) in the BRAT1 gene. It is expected to result in an absent or disrupted protein … (more)

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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Title Author Journal Year Link
Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation. Straussberg R European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2015 PMID: 25500575
Genetic mapping and exome sequencing identify variants associated with five novel diseases. Puffenberger EG PloS one 2012 PMID: 22279524

Record last updated May 10, 2021