VCV003257758.1 - ClinVar

NM_004333.6(BRAF):c.1798_1799delinsAA

Germline

No data submitted for germline classification

Somatic

No data submitted for somatic clinical impact

Somatic

Oncogenicity

The aggregate oncogenicity classification for this variant for one or more tumor types, using the ClinGen/CGC/VICC terminology. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(1)

Stars represent the aggregate review status, or the level of review supporting the aggregate oncogenicity 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.

Oncogenic

criteria provided, single submitter

Variant Details

This haplotype includes the following variants

NM_004333.6(BRAF):c.1798_1799delinsAA

Other names: -
Functional consequence: -
Links: -

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
Gene	OMIM	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	1250	1364

Conditions - Somatic

Tumor type Help The tumor type for this variant-condition (RCV) record in ClinVar.	Clinical impact (# of submissions) Help The aggregate somatic clinical impact for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to the aggregate somatic clinical impact is shown in parentheses. The corresponding review status for the RCV record is indicated by stars. Read our rules for calculating the review status.	Oncogenicity Help The aggregate oncogenicity classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to the aggregate oncogenicity classification is shown in parentheses. The corresponding review status for the RCV record is indicated by stars. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the tumor type.	Variation/condition record Help The most recent date that a submitter evaluated this variant for the tumor type.
Neoplasm		Oncogenic criteria provided, single submitter	Jul 31, 2024	RCV004674073.1

Submissions - Somatic

Oncogenicity Help The submitted oncogenicity 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)	Tumor type Help The tumor type 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 somatic clinical impact, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.

Oncogenic

(Jul 31, 2024)

(ClinGen/CGC/VICC Guidelines for Oncogenicity, 2022)

Method: clinical testing

Neoplasm

Affected status: unknown

Allele origin: somatic

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

Accession: SCV005093892.1
First In ClinVar: Aug 11, 2024
Last updated: Aug 11, 2024

Citations for somatic classification of this variant

Title	Author	Journal	Year	Link
Dabrafenib plus trametinib in BRAFV600E-mutated rare cancers: the phase 2 ROAR trial.	Subbiah V	Nature medicine	2023	PMID: 37059834
DURABLE RESPONSE IN A CASE OF METASTATIC ANAPLASTIC THYROID CANCER USING A COMBINATION OF TYROSINE KINASE INHIBITORS AND A CHECK POINT INHIBITOR.	Lungulescu C	Acta endocrinologica (Bucharest, Romania : 2005)	2020	PMID: 33029242
Neoadjuvant BRAF- and Immune-Directed Therapy for Anaplastic Thyroid Carcinoma.	Cabanillas ME	Thyroid : official journal of the American Thyroid Association	2018	PMID: 29742974
Genetic Analysis of 779 Advanced Differentiated and Anaplastic Thyroid Cancers.	Pozdeyev N	Clinical cancer research : an official journal of the American Association for Cancer Research	2018	PMID: 29615459
Adjuvant Dabrafenib plus Trametinib in Stage III BRAF-Mutated Melanoma.	Long GV	The New England journal of medicine	2017	PMID: 28891408
Colorectal Cancer with BRAF D594G Mutation Is Not Associated with Microsatellite Instability or Poor Prognosis.	Amaki-Takao M	Oncology	2016	PMID: 27404270
Improved overall survival in melanoma with combined dabrafenib and trametinib.	Robert C	The New England journal of medicine	2015	PMID: 25399551
Combined BRAF and MEK inhibition versus BRAF inhibition alone in melanoma.	Long GV	The New England journal of medicine	2014	PMID: 25265492
BRAFV600E mutation and its association with clinicopathological features of colorectal cancer: a systematic review and meta-analysis.	Chen D	PloS one	2014	PMID: 24594804
BRAF mutation is associated with distinct clinicopathological characteristics in colorectal cancer: a systematic review and meta-analysis.	Clancy C	Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland	2013	PMID: 24112392
Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations.	Flaherty KT	The New England journal of medicine	2012	PMID: 23020132
Addition of cetuximab to oxaliplatin-based first-line combination chemotherapy for treatment of advanced colorectal cancer: results of the randomised phase 3 MRC COIN trial.	Maughan TS	Lancet (London, England)	2011	PMID: 21641636
Cetuximab plus irinotecan, fluorouracil, and leucovorin as first-line treatment for metastatic colorectal cancer: updated analysis of overall survival according to tumor KRAS and BRAF mutation status.	Van Cutsem E	Journal of clinical oncology : official journal of the American Society of Clinical Oncology	2011	PMID: 21502544
Prognostic role of KRAS and BRAF in stage II and III resected colon cancer: results of the translational study on the PETACC-3, EORTC 40993, SAKK 60-00 trial.	Roth AD	Journal of clinical oncology : official journal of the American Society of Clinical Oncology	2010	PMID: 20008640
https://civicdb.org/links/evidence/103	-	-	-	-
https://civicdb.org/links/evidence/1552	-	-	-	-
https://civicdb.org/links/evidence/3758	-	-	-	-
https://civicdb.org/links/evidence/6178	-	-	-	-
https://civicdb.org/links/evidence/6938	-	-	-	-
https://civicdb.org/links/evidence/6940	-	-	-	-
https://civicdb.org/links/evidence/7156	-	-	-	-
https://civicdb.org/links/evidence/7157	-	-	-	-
https://civicdb.org/links/evidence/7158	-	-	-	-
https://civicdb.org/links/evidence/7159	-	-	-	-
https://identifiers.org/civic.mpid:12	-	-	-	-
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Text-mined citations for this variant ...

Record last updated Nov 03, 2024

ClinVar Genomic variation as it relates to human health

NM_004333.6(BRAF):c.1798_1799delinsAA

Variant Details

NM_004333.6(BRAF):c.1798_1799delinsAA

Genes

Conditions - Somatic

Submissions - Somatic

Citations for somatic classification of this variant

Text-mined citations for this variant ...