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NM_152743.4(BRAT1):c.1636G>T (p.Val546Leu)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 18, 2021)
Last evaluated:
Nov 21, 2020
Accession:
VCV000472948.7
Variation ID:
472948
Description:
single nucleotide variant
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NM_152743.4(BRAT1):c.1636G>T (p.Val546Leu)

Allele ID
457053
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p22.3
Genomic location
7: 2539313 (GRCh38) GRCh38 UCSC
7: 2578947 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.2578947C>A
NC_000007.14:g.2539313C>A
NG_032167.1:g.21446G>T
... more HGVS
Protein change
V546L, V371L
Other names
-
Canonical SPDI
NC_000007.14:2539312:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01897 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.01894
The Genome Aggregation Database (gnomAD) 0.01742
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01761
1000 Genomes Project 0.01897
Links
ClinGen: CA4127642
dbSNP: rs34656552
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Jul 17, 2018 RCV000710743.6
Benign 1 criteria provided, single submitter Nov 21, 2020 RCV001083589.2
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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
Benign
(Nov 20, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000841041.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
Rigidity and multifocal seizure syndrome, lethal neonatal
Allele origin: germline
Invitae
Accession: SCV000652234.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jul 17, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001893556.1
Submitted: (Sep 18, 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 rs34656552...

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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