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

Clinical significance:Likely pathogenic (Last evaluated: Oct 12, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000037937.2

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_004333.6:c.1799_1801del
  • NP_001341538.1:p.Val600_Lys601delinsGlu
  • 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_004333.6:c.1799_1801del - inframe_indel - [Sequence Ontology: SO:0001820]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000061602Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(Oct 12, 2011)
somaticclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot provided11not providednot providednot providedclinical 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, Partners HealthCare Personalized Medicine, SCV000061602.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical 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).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot provided1not provided1not provided

Last Updated: Jul 7, 2021

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