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NM_152743.4(BRAT1):c.1823del (p.Pro608fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 14, 2020
Accession:
VCV001074999.1
Variation ID:
1074999
Description:
1bp deletion
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NM_152743.4(BRAT1):c.1823del (p.Pro608fs)

Allele ID
1061072
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
7p22.3
Genomic location
7: 2538712 (GRCh38) GRCh38 UCSC
7: 2578346 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.2578348del
NC_000007.14:g.2538714del
NM_152743.4:c.1823del MANE Select NP_689956.2:p.Pro608fs frameshift
... more HGVS
Protein change
P433fs, P608fs, P668fs
Other names
-
Canonical SPDI
NC_000007.14:2538711:GGG:GG
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 14, 2020 RCV001388478.1
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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
(Feb 14, 2020)
criteria provided, single submitter
Method: clinical testing
Rigidity and multifocal seizure syndrome, lethal neonatal
Allele origin: germline
Invitae
Accession: SCV001589477.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change results in a premature translational stop signal in the BRAT1 gene (p.Pro608Hisfs*85). While this is not anticipated to result in nonsense mediated … (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
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