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NM_001374258.1(BRAF):c.1452G>A (p.Arg484=)

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Interpretation:
Benign​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
8 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 18, 2017
Accession:
VCV000040362.5
Variation ID:
40362
Description:
single nucleotide variant
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NM_001374258.1(BRAF):c.1452G>A (p.Arg484=)

Allele ID
48832
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q34
Genomic location
7: 140781676 (GRCh38) GRCh38 UCSC
7: 140481476 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.140481476C>T
NC_000007.14:g.140781676C>T
NM_001374258.1:c.1452G>A MANE Select NP_001361187.1:p.Arg484= synonymous
... more HGVS
Protein change
-
Other names
p.R444R
NM_004333.4(BRAF):c.1332G>A
Canonical SPDI
NC_000007.14:140781675:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00051
Trans-Omics for Precision Medicine (TOPMed) 0.00070
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00115
Exome Aggregation Consortium (ExAC) 0.00059
The Genome Aggregation Database (gnomAD), exomes 0.00056
Links
ClinGen: CA135067
dbSNP: rs56101602
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 reviewed by expert panel Apr 18, 2017 RCV000033300.10
Benign 2 criteria provided, multiple submitters, no conflicts Mar 18, 2013 RCV000037911.6
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000333893.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000388426.2
Benign 1 criteria provided, single submitter Feb 6, 2017 RCV000588198.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRAF Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
537 580

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Apr 18, 2017)
reviewed by expert panel
Method: curation
Noonan syndrome and Noonan-related syndrome
(Autosomal dominant inheritance)
Allele origin: germline
ClinGen RASopathy Variant Curation Expert Panel
FDA Recognized Database
Accession: SCV000616458.3
Submitted: (Feb 25, 2019)
Evidence details
Other databases
https://erepo.clinicalgenome.org…
Comment:
The filtering allele frequency of the c.1332G>A (p.Arg444=) variant in the BRAF gene is 0.077% (64/66708) of European chromosomes by the Exome Aggregation Consortium, which … (more)
Benign
(-)
criteria provided, single submitter
Method: clinical testing
Rasopathy
Allele origin: unknown
GeneDx
Accession: SCV000057205.3
Submitted: (May 02, 2013)
Evidence details
Comment:
Converted during submission to Benign.
Benign
(Mar 18, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000058305.9
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Oct 16, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000061573.5
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (3)
Comment:
Arg444Arg in exon 11 of BRAF: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Noonan syndrome 7
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000466977.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
LEOPARD syndrome 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000466978.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Feb 06, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698332.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The BRAF c.1332G>A variant involves the alteration of non-conserved nucleotide, resulting in synonymous amino acid change. It is predicted to have no significant … (more)
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Rasopathy
Allele origin: germline
Invitae
Accession: SCV000252785.7
Submitted: (Jan 07, 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
RASSF1A hypermethylation and its inverse correlation with BRAF and/or KRAS mutations in MSI-associated endometrial carcinoma. Kang S International journal of cancer 2006 PMID: 16619251
BRAF mutations distinguish anorectal from cutaneous melanoma at the molecular level. Helmke BM Gastroenterology 2004 PMID: 15578519
BRAF mutations in metastatic melanoma: a possible association with clinical outcome. Kumar R Clinical cancer research : an official journal of the American Association for Cancer Research 2003 PMID: 12960123
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRAF - - - -
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/ffcded9c-7ba2-44bb-9809-17cef8005944 - - - -

Text-mined citations for rs56101602...

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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 Aug 27, 2021