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NM_152743.4(BRAT1):c.1013dup (p.Gly339fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Jul 21, 2018
Accession:
VCV000647546.1
Variation ID:
647546
Description:
1bp duplication
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NM_152743.4(BRAT1):c.1013dup (p.Gly339fs)

Allele ID
636077
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
7p22.3
Genomic location
7: 2542121-2542122 (GRCh38) GRCh38 UCSC
7: 2581755-2581756 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.2581760dup
NC_000007.14:g.2542126dup
NM_152743.4:c.1013dup MANE Select NP_689956.2:p.Gly339fs frameshift
... more HGVS
Protein change
G339fs, G164fs
Other names
-
Canonical SPDI
NC_000007.14:2542121:GGGGG:GGGGGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs754341393
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 Jul 21, 2018 RCV000802074.1
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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
(Jul 21, 2018)
criteria provided, single submitter
Method: clinical testing
Rigidity and multifocal seizure syndrome, lethal neonatal
Allele origin: germline
Invitae
Accession: SCV000941888.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Gly339Argfs*64) 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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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 rs754341393...

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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 Aug 06, 2020