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NM_152743.4(BRAT1):c.1163C>T (p.Ala388Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 17, 2021)
Last evaluated:
Jul 8, 2020
Accession:
VCV000975187.5
Variation ID:
975187
Description:
single nucleotide variant
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NM_152743.4(BRAT1):c.1163C>T (p.Ala388Val)

Allele ID
963629
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p22.3
Genomic location
7: 2541456 (GRCh38) GRCh38 UCSC
7: 2581090 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.2581090G>A
NC_000007.14:g.2541456G>A
NG_032167.1:g.19303C>T
... more HGVS
Protein change
A213V, A388V
Other names
-
Canonical SPDI
NC_000007.14:2541455:G:A
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
Uncertain significance 1 criteria provided, single submitter Jul 8, 2020 RCV001299232.1
Uncertain significance 1 criteria provided, single submitter Jun 11, 2020 RCV001564796.3
Likely benign 1 no assertion criteria provided Jan 1, 2019 RCV001251686.1
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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
Uncertain significance
(Jul 08, 2020)
criteria provided, single submitter
Method: clinical testing
Rigidity and multifocal seizure syndrome, lethal neonatal
Allele origin: germline
Invitae
Accession: SCV001488315.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces alanine with valine at codon 388 of the BRAT1 protein (p.Ala388Val). The alanine residue is moderately conserved and there is a … (more)
Uncertain significance
(Jun 11, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001788014.1
Submitted: (Aug 17, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports … (more)
Likely benign
(Jan 01, 2019)
no assertion criteria provided
Method: clinical testing
Intellectual disability
Allele origin: uniparental
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
Accession: SCV001427426.1
Submitted: (May 05, 2020)
Evidence details
Publications
PubMed (1)

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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Record last updated Sep 29, 2021