ClinVar Genomic variation as it relates to human health
NM_004333.6(BRAF):c.1798_1799delinsAG (p.Val600Arg)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_004333.6(BRAF):c.1798_1799delinsAG (p.Val600Arg)
Variation ID: 375940 Accession: VCV000375940.2
- Type and length
-
Indel, 2 bp
- Location
-
Cytogenetic: 7q34 7: 140753336-140753337 (GRCh38) [ NCBI UCSC ] 7: 140453136-140453137 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Mar 8, 2017 Mar 8, 2017 Jul 14, 2015 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_004333.6:c.1798_1799delinsAG MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_004324.2:p.Val600Arg missense NM_001374258.1:c.1918_1919delinsAG MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001361187.1:p.Val640Arg missense NM_001354609.2:c.1798_1799delinsAG NP_001341538.1:p.Val600Arg missense NM_001374244.1:c.1918_1919delinsAG NP_001361173.1:p.Val640Arg missense NM_001378467.1:c.1807_1808delinsAG NP_001365396.1:p.Val603Arg missense NM_001378468.1:c.1798_1799delinsAG NP_001365397.1:p.Val600Arg missense NM_001378469.1:c.1732_1733delinsAG NP_001365398.1:p.Val578Arg missense NM_001378470.1:c.1696_1697delinsAG NP_001365399.1:p.Val566Arg missense NM_001378471.1:c.1687_1688delinsAG NP_001365400.1:p.Val563Arg missense NM_001378472.1:c.1642_1643delinsAG NP_001365401.1:p.Val548Arg missense NM_001378473.1:c.1642_1643delinsAG NP_001365402.1:p.Val548Arg missense NM_001378474.1:c.1798_1799delinsAG NP_001365403.1:p.Val600Arg missense NM_001378475.1:c.1534_1535delinsAG NP_001365404.1:p.Val512Arg missense NC_000007.14:g.140753336_140753337delinsCT NC_000007.13:g.140453136_140453137delinsCT NG_007873.3:g.176428_176429delinsAG LRG_299:g.176428_176429delinsAG - Protein change
- V600R, V512R, V548R, V563R, V566R, V578R, V603R, V640R
- Other names
- -
- Canonical SPDI
- NC_000007.14:140753335:AC:CT
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRAF | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1230 | 1339 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic (1) |
no assertion criteria provided
|
Jul 14, 2015 | RCV000440177.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Pathogenic
(Jul 14, 2015)
|
no assertion criteria provided
Method: literature only
|
Melanoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000504265.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
Germline Functional Evidence
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 germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. | MacConaill LE | The Journal of molecular diagnostics : JMD | 2014 | PMID: 25157968 |
Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations. | Gentilcore G | BMC cancer | 2013 | PMID: 23317446 |
Phase II study of the MEK1/MEK2 inhibitor Trametinib in patients with metastatic BRAF-mutant cutaneous melanoma previously treated with or without a BRAF inhibitor. | Kim KB | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2013 | PMID: 23248257 |
BRAF inhibitor activity in V600R metastatic melanoma. | Klein O | European journal of cancer (Oxford, England : 1990) | 2013 | PMID: 23237741 |
Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma. | Patel SP | Cancer | 2013 | PMID: 22972589 |
Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations. | Flaherty KT | The New England journal of medicine | 2012 | PMID: 23020132 |
Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial. | Falchook GS | The Lancet. Oncology | 2012 | PMID: 22805292 |
Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial. | Hauschild A | Lancet (London, England) | 2012 | PMID: 22735384 |
Improved survival with MEK inhibition in BRAF-mutated melanoma. | Flaherty KT | The New England journal of medicine | 2012 | PMID: 22663011 |
Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial. | Falchook GS | Lancet (London, England) | 2012 | PMID: 22608338 |
Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. | Sosman JA | The New England journal of medicine | 2012 | PMID: 22356324 |
Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma. | Kirkwood JM | Clinical cancer research : an official journal of the American Association for Cancer Research | 2012 | PMID: 22048237 |
Improved survival with vemurafenib in melanoma with BRAF V600E mutation. | Chapman PB | The New England journal of medicine | 2011 | PMID: 21639808 |
Inhibition of mutated, activated BRAF in metastatic melanoma. | Flaherty KT | The New England journal of medicine | 2010 | PMID: 20818844 |
RG7204 (PLX4032), a selective BRAFV600E inhibitor, displays potent antitumor activity in preclinical melanoma models. | Yang H | Cancer research | 2010 | PMID: 20551065 |
Determinants of BRAF mutations in primary melanomas. | Maldonado JL | Journal of the National Cancer Institute | 2003 | PMID: 14679157 |
Mutations of the BRAF gene in human cancer. | Davies H | Nature | 2002 | PMID: 12068308 |
http://docm.genome.wustl.edu/variants/ENST00000288602:c.1798GT>AG | - | - | - | - |
click to load more click to collapse |
Text-mined citations for rs121913227 ...
HelpRecord last updated Jul 17, 2023
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.