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NM_152743.4(BRAT1):c.453_454insATCTTCTC (p.Leu152fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 9, 2020
Accession:
VCV001073760.1
Variation ID:
1073760
Description:
8bp microsatellite
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NM_152743.4(BRAT1):c.453_454insATCTTCTC (p.Leu152fs)

Allele ID
1061075
Variant type
Microsatellite
Variant length
8 bp
Cytogenetic location
7p22.3
Genomic location
7: 2543939-2543940 (GRCh38) GRCh38 UCSC
7: 2583573-2583574 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.2583574GA[2]AGATG[1]
NC_000007.14:g.2543940GA[2]AGATG[1]
NM_152743.4:c.453_454insATCTTCTC MANE Select NP_689956.2:p.Leu152fs frameshift
... more HGVS
Protein change
L152fs
Other names
-
Canonical SPDI
NC_000007.14:2543939:G:GAGAAGATG
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 Oct 9, 2020 RCV001386843.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Oct 09, 2020)
criteria provided, single submitter
Method: clinical testing
Rigidity and multifocal seizure syndrome, lethal neonatal
Allele origin: germline
Invitae
Accession: SCV001587215.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Leu152Ilefs*70) 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
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Saunders CJ Science translational medicine 2012 PMID: 23035047
Genetic mapping and exome sequencing identify variants associated with five novel diseases. Puffenberger EG PloS one 2012 PMID: 22279524

Record last updated May 13, 2021