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NM_152743.4(BRAT1):c.1032G>A (p.Thr344=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 31, 2021)
Last evaluated:
Nov 5, 2020
Accession:
VCV000585485.7
Variation ID:
585485
Description:
single nucleotide variant
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NM_152743.4(BRAT1):c.1032G>A (p.Thr344=)

Allele ID
576968
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p22.3
Genomic location
7: 2541820 (GRCh38) GRCh38 UCSC
7: 2581454 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.2581454C>T
NC_000007.14:g.2541820C>T
NG_032167.1:g.18939G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:2541819:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD) 0.00003
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs371220513
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Aug 31, 2020 RCV000710739.6
Likely benign 1 criteria provided, single submitter Nov 5, 2020 RCV001089431.2
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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
Likely benign
(Feb 20, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000841037.1
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(Nov 05, 2020)
criteria provided, single submitter
Method: clinical testing
Rigidity and multifocal seizure syndrome, lethal neonatal
Allele origin: germline
Invitae
Accession: SCV001088683.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Aug 31, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001811215.1
Submitted: (Aug 31, 2021)
Evidence details

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 rs371220513...

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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 Sep 29, 2021