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NM_004333.6(BRAF):c.1799_1801del (p.Val600_Lys601delinsGlu)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 31, 2021)
Last evaluated:
Oct 12, 2011
Accession:
VCV000044817.2
Variation ID:
44817
Description:
3bp deletion
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NM_004333.6(BRAF):c.1799_1801del (p.Val600_Lys601delinsGlu)

Allele ID
53984
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
7q34
Genomic location
7: 140753334-140753336 (GRCh38) GRCh38 UCSC
7: 140453134-140453136 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.140453134_140453136del
NC_000007.14:g.140753334_140753336del
NM_001354609.2:c.1799_1801del NP_001341538.1:p.Val600_Lys601delinsGlu
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:140753333:TCA:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA135107
dbSNP: rs397516897
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 12, 2011 RCV000037937.2
Uncertain significance 1 no assertion criteria provided - RCV001354719.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRAF Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
555 598

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 12, 2011)
criteria provided, single submitter
Method: clinical testing
Non-small cell lung cancer
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000061602.4
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
Positive. The Val600_Lys601delinsGlu variant has not been previously reported i n lung tumors, but has been reported as a confirmed somatic variant in papillary thyroid … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001549403.1
Submitted: (Mar 31, 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
Mutations of the BRAF gene in human cancer. Davies H Nature 2002 PMID: 12068308

Text-mined citations for rs397516897...

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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 Jul 07, 2021