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NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 7, 2021)
Last evaluated:
Aug 1, 2021
Accession:
VCV000377093.15
Variation ID:
377093
Description:
single nucleotide variant
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NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg)

Allele ID
363971
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p22.3
Genomic location
7: 2542173 (GRCh38) GRCh38 UCSC
7: 2581807 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.2581807A>C
NC_000007.14:g.2542173A>C
NG_032167.1:g.18586T>G
... more HGVS
Protein change
L321R, L146R
Other names
-
Canonical SPDI
NC_000007.14:2542172:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00339 (C)

Allele frequency
1000 Genomes Project 0.00339
Trans-Omics for Precision Medicine (TOPMed) 0.00596
The Genome Aggregation Database (gnomAD), exomes 0.00598
The Genome Aggregation Database (gnomAD) 0.00632
Exome Aggregation Consortium (ExAC) 0.01028
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00480
Links
ClinGen: CA4127987
dbSNP: rs150942467
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 4 criteria provided, multiple submitters, no conflicts Aug 1, 2021 RCV000444010.12
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV001082821.2
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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
(Sep 12, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000511253.1
Submitted: (Feb 17, 2017)
Evidence details
Comment:
Converted during submission to Likely benign.
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Rigidity and multifocal seizure syndrome, lethal neonatal
Allele origin: germline
Invitae
Accession: SCV000652284.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Nov 14, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001143178.1
Submitted: (Sep 25, 2019)
Evidence details
Publications
PubMed (2)
Benign
(Sep 23, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001836971.1
Submitted: (Sep 07, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 29375859)
Likely benign
(Aug 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001155003.7
Submitted: (Jul 04, 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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Title Author Journal Year Link
Congenital methemoglobinemia type II in a 5-year-old boy. Mannino EA Clinical case reports 2017 PMID: 29375859
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. Strom SP PloS one 2016 PMID: 26964041

Text-mined citations for rs150942467...

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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 Oct 08, 2021