NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) AND Non-small cell lung carcinoma

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 13, 2010
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:: RCV000037931.6

Allele description [Variation Report for NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)]

NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

Preferred name:

NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)

HGVS:

NC_000007.14:g.140753355C>T
NG_007873.3:g.176410G>A
NM_001354609.2:c.1780G>A
NM_001374244.1:c.1900G>A
NM_001374258.1:c.1900G>A
NM_001378467.1:c.1789G>A
NM_001378468.1:c.1780G>A
NM_001378469.1:c.1714G>A
NM_001378470.1:c.1678G>A
NM_001378471.1:c.1669G>A
NM_001378472.1:c.1624G>A
NM_001378473.1:c.1624G>A
NM_001378474.1:c.1780G>A
NM_001378475.1:c.1516G>A
NM_004333.6:c.1780G>AMANE SELECT
NP_001341538.1:p.Asp594Asn
NP_001361173.1:p.Asp634Asn
NP_001361187.1:p.Asp634Asn
NP_001365396.1:p.Asp597Asn
NP_001365397.1:p.Asp594Asn
NP_001365398.1:p.Asp572Asn
NP_001365399.1:p.Asp560Asn
NP_001365400.1:p.Asp557Asn
NP_001365401.1:p.Asp542Asn
NP_001365402.1:p.Asp542Asn
NP_001365403.1:p.Asp594Asn
NP_001365404.1:p.Asp506Asn
NP_004324.2:p.Asp594Asn
LRG_299t1:c.1780G>A
LRG_299:g.176410G>A
NC_000007.13:g.140453155C>T
NM_004333.4:c.1780G>A
c.1780G>A

Protein change:

D506N

Links:

dbSNP: rs397516896

NCBI 1000 Genomes Browser:

rs397516896

Molecular consequence:

NM_001354609.2:c.1780G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374244.1:c.1900G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374258.1:c.1900G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378467.1:c.1789G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378468.1:c.1780G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378469.1:c.1714G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378470.1:c.1678G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378471.1:c.1669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378472.1:c.1624G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378473.1:c.1624G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378474.1:c.1780G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378475.1:c.1516G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004333.6:c.1780G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000061596	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely pathogenic (May 13, 2010)	somatic	clinical testing	PubMed (8) [See all records that cite these PMIDs] 12068308, 19383316, 17119447, 17096326, 19913317, 18368129, 17311103, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000061596

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely pathogenic
(May 13, 2010)

somatic

clinical testing

PubMed (8)
[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

Gene expression signature associated with BRAF mutations in human primary cutaneous melanomas.

Kannengiesser C, Spatz A, Michiels S, Eychène A, Dessen P, Lazar V, Winnepenninckx V, Lesueur F, Druillennec S, Robert C, van den Oord JJ, Sarasin A, Bressac-de Paillerets B; EORTC Melanoma group.

Mol Oncol. 2008 Apr;1(4):425-30. doi: 10.1016/j.molonc.2008.01.002. Epub 2008 Jan 12.

PubMed [citation]

PMID:: 19383316
PMCID:: PMC5543835

See all PubMed Citations (8)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061596.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (8)

#	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: Apr 13, 2025

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