U.S. flag

An official website of the United States government

NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) AND B-cell chronic lymphocytic leukemia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 14, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000436895.2

Allele description [Variation Report for NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)]

NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)

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.1391G>A (p.Gly464Glu)
HGVS:
  • NC_000007.14:g.140781617C>T
  • NG_007873.3:g.148148G>A
  • NM_001354609.2:c.1391G>A
  • NM_001374244.1:c.1511G>A
  • NM_001374258.1:c.1511G>A
  • NM_001378467.1:c.1400G>A
  • NM_001378468.1:c.1391G>A
  • NM_001378469.1:c.1325G>A
  • NM_001378470.1:c.1289G>A
  • NM_001378471.1:c.1280G>A
  • NM_001378472.1:c.1235G>A
  • NM_001378473.1:c.1235G>A
  • NM_001378474.1:c.1391G>A
  • NM_001378475.1:c.1127G>A
  • NM_004333.6:c.1391G>AMANE SELECT
  • NP_001341538.1:p.Gly464Glu
  • NP_001361173.1:p.Gly504Glu
  • NP_001361187.1:p.Gly504Glu
  • NP_001365396.1:p.Gly467Glu
  • NP_001365397.1:p.Gly464Glu
  • NP_001365398.1:p.Gly442Glu
  • NP_001365399.1:p.Gly430Glu
  • NP_001365400.1:p.Gly427Glu
  • NP_001365401.1:p.Gly412Glu
  • NP_001365402.1:p.Gly412Glu
  • NP_001365403.1:p.Gly464Glu
  • NP_001365404.1:p.Gly376Glu
  • NP_004324.2:p.Gly464Glu
  • LRG_299t1:c.1391G>A
  • LRG_299:g.148148G>A
  • NC_000007.13:g.140481417C>T
  • NM_004333.4:c.1391G>A
  • NM_004333.5:c.1391G>A
  • NM_004333.6(BRAF):c.1391G>AMANE SELECT
  • P15056:p.Gly464Glu
  • p.Gly464Val
Protein change:
G376E; GLY464GLU
Links:
UniProtKB: P15056#VAR_018615; OMIM: 164757.0004; dbSNP: rs121913348
NCBI 1000 Genomes Browser:
rs121913348
Molecular consequence:
  • NM_001354609.2:c.1391G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.1511G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.1511G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1400G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1391G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1325G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1289G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1280G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1235G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1235G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1391G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1127G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1391G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
B-cell chronic lymphocytic leukemia
Synonyms:
Chronic lymphocytic leukemia; Leukemia, B-cell, chronic; Chronic lymphatic leukemia
Identifiers:
MONDO: MONDO:0004948; MeSH: D015451; MedGen: C0023434; Orphanet: 67038; OMIM: 151400; Human Phenotype Ontology: HP:0005550

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000505050Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(Jul 14, 2015) 		somaticliterature only

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE, Garcia E, Shivdasani P, Ducar M, Adusumilli R, Breneiser M, Byrne M, Chung L, Conneely J, Crosby L, Garraway LA, Gong X, Hahn WC, Hatton C, Kantoff PW, Kluk M, Kuo F, Jia Y, Joshi R, Longtine J, Manning A, Palescandolo E, et al.

J Mol Diagn. 2014 Nov;16(6):660-72. doi: 10.1016/j.jmoldx.2014.06.004. Epub 2014 Aug 23.

PubMed [citation]
PMID:
25157968
PMCID:
PMC4210463

Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.

Estep AL, Palmer C, McCormick F, Rauen KA.

PLoS One. 2007 Dec 5;2(12):e1279.

PubMed [citation]
PMID:
18060073
PMCID:
PMC2093994

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505050.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024