NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 19, 2024
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:: RCV000413557.2

Allele description [Variation Report for NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg)]

NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg)

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.1390G>A (p.Gly464Arg)

HGVS:

NC_000007.14:g.140781618C>T
NG_007873.3:g.148147G>A
NM_001354609.2:c.1390G>A
NM_001374244.1:c.1510G>A
NM_001374258.1:c.1510G>A
NM_001378467.1:c.1399G>A
NM_001378468.1:c.1390G>A
NM_001378469.1:c.1324G>A
NM_001378470.1:c.1288G>A
NM_001378471.1:c.1279G>A
NM_001378472.1:c.1234G>A
NM_001378473.1:c.1234G>A
NM_001378474.1:c.1390G>A
NM_001378475.1:c.1126G>A
NM_004333.6:c.1390G>AMANE SELECT
NP_001341538.1:p.Gly464Arg
NP_001361173.1:p.Gly504Arg
NP_001361187.1:p.Gly504Arg
NP_001365396.1:p.Gly467Arg
NP_001365397.1:p.Gly464Arg
NP_001365398.1:p.Gly442Arg
NP_001365399.1:p.Gly430Arg
NP_001365400.1:p.Gly427Arg
NP_001365401.1:p.Gly412Arg
NP_001365402.1:p.Gly412Arg
NP_001365403.1:p.Gly464Arg
NP_001365404.1:p.Gly376Arg
NP_004324.2:p.Gly464Arg
LRG_299t1:c.1390G>A
LRG_299:g.148147G>A
NC_000007.13:g.140481418C>T
NM_004333.4:c.1390G>A

Protein change:

G376R

Links:

dbSNP: rs121913349

NCBI 1000 Genomes Browser:

rs121913349

Molecular consequence:

NM_001354609.2:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374244.1:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374258.1:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378467.1:c.1399G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378468.1:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378469.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378470.1:c.1288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378471.1:c.1279G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378472.1:c.1234G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378473.1:c.1234G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378474.1:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378475.1:c.1126G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004333.6:c.1390G>A - 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
SCV000490914	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jan 19, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000490914

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jan 19, 2024)

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, SCV000490914.2

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24918823, 34358384, 36964972, 25157968, 18386342, 24957944, 15488754, 16439621, 15520807, 17603483, 29493581, 33128510, 17704260)

#	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: Sep 29, 2024

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