NM_004333.6(BRAF):c.1799_1801del (p.Val600_Lys601delinsGlu) AND Non-small cell lung carcinoma

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 12, 2011
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000037937.5

Allele description [Variation Report for NM_004333.6(BRAF):c.1799_1801del (p.Val600_Lys601delinsGlu)]

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

Gene:

BRAF:B-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q34

Genomic location:

Preferred name:

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

HGVS:

NC_000007.14:g.140753334_140753336del
NG_007873.3:g.176429_176431del
NM_001354609.2:c.1799_1801del
NM_001374244.1:c.1919_1921del
NM_001374258.1:c.1919_1921del
NM_001378467.1:c.1808_1810del
NM_001378468.1:c.1799_1801del
NM_001378469.1:c.1733_1735del
NM_001378470.1:c.1697_1699del
NM_001378471.1:c.1688_1690del
NM_001378472.1:c.1643_1645del
NM_001378473.1:c.1643_1645del
NM_001378474.1:c.1799_1801del
NM_001378475.1:c.1535_1537del
NM_004333.6:c.1799_1801delMANE SELECT
NP_001341538.1:p.Val600_Lys601delinsGlu
NP_001361173.1:p.Val640_Lys641delinsGlu
NP_001361187.1:p.Val640_Lys641delinsGlu
NP_001365396.1:p.Val603_Lys604delinsGlu
NP_001365397.1:p.Val600_Lys601delinsGlu
NP_001365398.1:p.Val578_Lys579delinsGlu
NP_001365399.1:p.Val566_Lys567delinsGlu
NP_001365400.1:p.Val563_Lys564delinsGlu
NP_001365401.1:p.Val548_Lys549delinsGlu
NP_001365402.1:p.Val548_Lys549delinsGlu
NP_001365403.1:p.Val600_Lys601delinsGlu
NP_001365404.1:p.Val512_Lys513delinsGlu
NP_004324.2:p.Val600_Lys601delinsGlu
LRG_299t1:c.1799_1801del
LRG_299:g.176429_176431del
NC_000007.13:g.140453134_140453136del
NC_000007.13:g.140453134_140453136delTCA
NM_004333.4:c.1799_1801delTGA
c.1799_1801delTGA

Links:

dbSNP: rs397516897

NCBI 1000 Genomes Browser:

rs397516897

Molecular consequence:

NM_001354609.2:c.1799_1801del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001374244.1:c.1919_1921del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001374258.1:c.1919_1921del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001378467.1:c.1808_1810del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001378468.1:c.1799_1801del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001378469.1:c.1733_1735del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001378470.1:c.1697_1699del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001378471.1:c.1688_1690del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001378472.1:c.1643_1645del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001378473.1:c.1643_1645del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001378474.1:c.1799_1801del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001378475.1:c.1535_1537del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_004333.6:c.1799_1801del - inframe_indel - [Sequence Ontology: SO:0001820]

Observations:

Condition(s)

Name:: Non-small cell lung carcinoma (NSCLC)
Synonyms:: Non-small cell lung cancer
Identifiers:: MONDO: MONDO:0005233; MeSH: D002289; MedGen: C0007131; Human Phenotype Ontology: HP:0030358

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000061602	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely pathogenic (Oct 12, 2011)	somatic	clinical testing	PubMed (2) [See all records that cite these PMIDs] 12068308, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000061602

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely pathogenic
(Oct 12, 2011)

somatic

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations of the BRAF gene in human cancer.

Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, Davis N, Dicks E, Ewing R, Floyd Y, Gray K, Hall S, Hawes R, Hughes J, Kosmidou V, Menzies A, Mould C, Parker A, et al.

Nature. 2002 Jun 27;417(6892):949-54. Epub 2002 Jun 9.

PubMed [citation]

PMID:: 12068308

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061602.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

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 carcinomas (COSMIC). Somatic BRAF variants have been identified in up t o 3% of cases of lung adenocarcinoma (Davies 2002).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	not provided	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Jul 16, 2023

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