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NM_152743.4(BRAT1):c.1484C>T (p.Pro495Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 29, 2020
Accession:
VCV000472945.5
Variation ID:
472945
Description:
single nucleotide variant
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NM_152743.4(BRAT1):c.1484C>T (p.Pro495Leu)

Allele ID
457055
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p22.3
Genomic location
7: 2539800 (GRCh38) GRCh38 UCSC
7: 2579434 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.2579434G>A
NC_000007.14:g.2539800G>A
NM_152743.4:c.1484C>T MANE Select NP_689956.2:p.Pro495Leu missense
... more HGVS
Protein change
P495L, P320L
Other names
-
Canonical SPDI
NC_000007.14:2539799:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (A)

Allele frequency
1000 Genomes Project 0.00080
Exome Aggregation Consortium (ExAC) 0.00036
The Genome Aggregation Database (gnomAD) 0.00025
Trans-Omics for Precision Medicine (TOPMed) 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00023
Links
ClinGen: CA4127733
dbSNP: rs577945739
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 29, 2020 RCV000525860.6
Uncertain significance 1 criteria provided, single submitter May 30, 2019 RCV000991583.1
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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
(May 30, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001143166.1
Submitted: (Sep 25, 2019)
Evidence details
Uncertain significance
(Jul 29, 2020)
criteria provided, single submitter
Method: clinical testing
Rigidity and multifocal seizure syndrome, lethal neonatal
Allele origin: germline
Invitae
Accession: SCV000652231.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces proline with leucine at codon 495 of the BRAT1 protein (p.Pro495Leu). The proline residue is weakly conserved and there is a … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs577945739...

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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 Mar 22, 2021