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NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) AND not specified

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 10, 2017
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:
RCV000506575.9

Allele description [Variation Report for NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)]

NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)

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.1406G>A (p.Gly469Glu)
Other names:
p.G469E:GGA>GAA; NM_004333.5(BRAF):c.1406G>A; NM_004333.6(BRAF):c.1406G>A
HGVS:
  • NC_000007.14:g.140781602C>T
  • NG_007873.3:g.148163G>A
  • NM_001354609.2:c.1406G>A
  • NM_001374244.1:c.1526G>A
  • NM_001374258.1:c.1526G>A
  • NM_001378467.1:c.1415G>A
  • NM_001378468.1:c.1406G>A
  • NM_001378469.1:c.1340G>A
  • NM_001378470.1:c.1304G>A
  • NM_001378471.1:c.1295G>A
  • NM_001378472.1:c.1250G>A
  • NM_001378473.1:c.1250G>A
  • NM_001378474.1:c.1406G>A
  • NM_001378475.1:c.1142G>A
  • NM_004333.6:c.1406G>AMANE SELECT
  • NP_001341538.1:p.Gly469Glu
  • NP_001361173.1:p.Gly509Glu
  • NP_001361187.1:p.Gly509Glu
  • NP_001365396.1:p.Gly472Glu
  • NP_001365397.1:p.Gly469Glu
  • NP_001365398.1:p.Gly447Glu
  • NP_001365399.1:p.Gly435Glu
  • NP_001365400.1:p.Gly432Glu
  • NP_001365401.1:p.Gly417Glu
  • NP_001365402.1:p.Gly417Glu
  • NP_001365403.1:p.Gly469Glu
  • NP_001365404.1:p.Gly381Glu
  • NP_004324.2:p.Gly469Glu
  • LRG_299t1:c.1406G>A
  • LRG_299:g.148163G>A
  • NC_000007.13:g.140481402C>T
  • NM_001374258.1:c.1526G>A
  • NM_004333.4:c.1406G>A
  • NM_004333.5:c.1406G>A
  • P15056:p.Gly469Glu
  • c.1406G>A
Protein change:
G381E; GLY469GLU
Links:
UniProtKB: P15056#VAR_018621; OMIM: 164757.0014; dbSNP: rs121913355
NCBI 1000 Genomes Browser:
rs121913355
Molecular consequence:
  • NM_001354609.2:c.1406G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.1526G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.1526G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1415G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1406G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1340G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1304G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1295G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1250G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1250G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1406G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1142G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1406G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000602657ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Pathogenic
(Mar 10, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000602657.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024