NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 11, 2023
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:: RCV000414439.5

Allele description [Variation Report for NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)]

NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)

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.1783T>C (p.Phe595Leu)

HGVS:

NC_000007.14:g.140753352A>G
NG_007873.3:g.176413T>C
NM_001354609.2:c.1783T>C
NM_001374244.1:c.1903T>C
NM_001374258.1:c.1903T>C
NM_001378467.1:c.1792T>C
NM_001378468.1:c.1783T>C
NM_001378469.1:c.1717T>C
NM_001378470.1:c.1681T>C
NM_001378471.1:c.1672T>C
NM_001378472.1:c.1627T>C
NM_001378473.1:c.1627T>C
NM_001378474.1:c.1783T>C
NM_001378475.1:c.1519T>C
NM_004333.6:c.1783T>CMANE SELECT
NP_001341538.1:p.Phe595Leu
NP_001361173.1:p.Phe635Leu
NP_001361187.1:p.Phe635Leu
NP_001365396.1:p.Phe598Leu
NP_001365397.1:p.Phe595Leu
NP_001365398.1:p.Phe573Leu
NP_001365399.1:p.Phe561Leu
NP_001365400.1:p.Phe558Leu
NP_001365401.1:p.Phe543Leu
NP_001365402.1:p.Phe543Leu
NP_001365403.1:p.Phe595Leu
NP_001365404.1:p.Phe507Leu
NP_004324.2:p.Phe595Leu
LRG_299t1:c.1783T>C
LRG_299:g.176413T>C
NC_000007.13:g.140453152A>G
NM_004333.4:c.1783T>C
P15056:p.Phe595Leu

Protein change:

F507L

Links:

UniProtKB: P15056#VAR_018625; dbSNP: rs794729219

NCBI 1000 Genomes Browser:

rs794729219

Molecular consequence:

NM_001354609.2:c.1783T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374244.1:c.1903T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374258.1:c.1903T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378467.1:c.1792T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378468.1:c.1783T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378469.1:c.1717T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378470.1:c.1681T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378471.1:c.1672T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378472.1:c.1627T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378473.1:c.1627T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378474.1:c.1783T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378475.1:c.1519T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004333.6:c.1783T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000491004	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Aug 11, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000491004

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Aug 11, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000491004.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as p.(F594L); This variant is associated with the following publications: (PMID: 22142829, 24803665, 37039257, 33683002, 28856074, 34573299, 31060855, 32913992, 18039235, MelchorL2015[Abstract], 31573083, 33128510, 29533785, 19206169, 20186801, 18042262, 21871821, 22495831, 29084544, 23093928, 35226061, 33198372, 34331515, 36448195, 26826419, 37530550, 26582644, 16439621, 15035987, 25463315, 24957944, 15488754, 15520807, 17603483, 29493581)

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

Last Updated: Apr 6, 2024

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