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NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) AND Cystic epithelial invagination containing papillae lined by columnar epithelium

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 7, 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:
RCV000662278.11

Allele description [Variation Report for NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)]

NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)

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.1799T>A (p.Val600Glu)
HGVS:
  • NC_000007.14:g.140753336A>T
  • NG_007873.3:g.176429T>A
  • NM_001354609.2:c.1799T>A
  • NM_001374244.1:c.1919T>A
  • NM_001374258.1:c.1919T>A
  • NM_001378467.1:c.1808T>A
  • NM_001378468.1:c.1799T>A
  • NM_001378469.1:c.1733T>A
  • NM_001378470.1:c.1697T>A
  • NM_001378471.1:c.1688T>A
  • NM_001378472.1:c.1643T>A
  • NM_001378473.1:c.1643T>A
  • NM_001378474.1:c.1799T>A
  • NM_001378475.1:c.1535T>A
  • NM_004333.6:c.1799T>AMANE SELECT
  • NP_001341538.1:p.Val600Glu
  • NP_001361173.1:p.Val640Glu
  • NP_001361187.1:p.Val640Glu
  • NP_001365396.1:p.Val603Glu
  • NP_001365397.1:p.Val600Glu
  • NP_001365398.1:p.Val578Glu
  • NP_001365399.1:p.Val566Glu
  • NP_001365400.1:p.Val563Glu
  • NP_001365401.1:p.Val548Glu
  • NP_001365402.1:p.Val548Glu
  • NP_001365403.1:p.Val600Glu
  • NP_001365404.1:p.Val512Glu
  • NP_004324.2:p.Val600Glu
  • NP_004324.2:p.Val600Glu
  • LRG_299t1:c.1799T>A
  • LRG_299:g.176429T>A
  • LRG_299p1:p.Val600Glu
  • NC_000007.12:g.140099605A>T
  • NC_000007.13:g.140453136A>T
  • NM_004333.4:c.1799T>A
  • NM_004333:c.1799T>A
  • P15056:p.Val600Glu
  • c.1799T>A
  • p.V600E
Protein change:
V512E; VAL600GLU
Links:
UniProtKB: P15056#VAR_018629; OMIM: 164757.0001; dbSNP: rs113488022
NCBI 1000 Genomes Browser:
rs113488022
Molecular consequence:
  • NM_001354609.2:c.1799T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.1919T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.1919T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1808T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1799T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1733T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1697T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1688T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1643T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1643T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1799T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1535T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1799T>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
  • Increased function
  • gain_of_function_variant [Sequence Ontology: SO:0002053]

Condition(s)

Name:
Cystic epithelial invagination containing papillae lined by columnar epithelium
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000784606Yale Center for Mendelian Genomics, Yale University
no assertion criteria provided
Pathogenic
(May 7, 2015) 		somaticliterature only

PubMed (1)
[See all records that cite this PMID]

SCV002106413Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics
no assertion criteria provided
Pathogenic
(May 7, 2015) 		somaticliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes4not providednot providednot providednot providedliterature only

Citations

PubMed

Somatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma Papilliferum.

Levinsohn JL, Sugarman JL, Bilguvar K, McNiff JM, Choate KA, The Yale Center For Mendelian Genomics.

J Invest Dermatol. 2015 Oct;135(10):2536-2538. doi: 10.1038/jid.2015.180. Epub 2015 May 7. Review. No abstract available.

PubMed [citation]
PMID:
25950823
PMCID:
PMC4567902

Details of each submission

From Yale Center for Mendelian Genomics, Yale University, SCV000784606.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided4not providednot providednot provided

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106413.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided4not providednot providednot provided

Last Updated: Nov 24, 2024