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NM_004333.4(BRAF):c.1799T>A (p.Val600Glu)

Variation ID: Help
13961
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Oct 8, 2013
Number of submission(s):
26
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_004333.4(BRAF):c.1799T>A (p.Val600Glu)

Allele ID:
29000
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
  • Chr7: 140753336 (on Assembly GRCh38)
  • Chr7: 140453136 (on Assembly GRCh37)
  • Chr7: 140099605 (on Assembly NCBI36)
Protein change:
V600E
HGVS:
  • NG_007873.3:g.176429T>A
  • NM_004333.4:c.1799T>A
  • NP_004324.2:p.Val600Glu
  • NC_000007.14:g.140753336A>T (GRCh38)
  • LRG_299t1:c.1799T>A
  • NC_000007.12:g.140099605A>T (NCBI36)
  • NC_000007.13:g.140453136A>T (GRCh37)
  • NG_007873.2:g.176429T>A
  • P15056:p.Val600Glu
  • LRG_299p1:p.Val600Glu
  • LRG_299:g.176429T>A
Links:
NCBI 1000 Genomes Browser:
rs113488022
Molecular consequence:
NM_004333.4:c.1799T>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
ExAC 0.00002 (T)

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Oct 8, 2013)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000112810.7

Somatic

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Aug 15, 2003)
no assertion criteria providedliterature onlysomaticOMIMSCV000035247.11
Pathogenic
(Aug 15, 2003)
no assertion criteria providedliterature onlysomaticOMIMSCV000035248.11
Pathogenic
(Aug 15, 2003)
no assertion criteria providedliterature onlysomaticOMIMSCV000035249.11
Pathogenic
(Aug 15, 2003)
no assertion criteria providedliterature only
  • Astrocytoma, low-grade, somatic[MedGen]
somaticOMIMSCV000035250.11
Pathogenic
(Aug 15, 2003)
no assertion criteria providedliterature only
  • Germ cell tumor, nonseminomatous[MedGen]
somaticOMIMSCV000043966.11
Pathogenic
(May 29, 2009)
no assertion criteria providedclinical testingsomaticLaboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000061601.3
Pathogenic
(Mar 3, 2016)
no assertion criteria providedliterature onlysomaticGeneReviewsSCV000264636.1
Pathogenic
(Oct 2, 2014)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504248.1
Pathogenic
(Mar 10, 2016)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504249.1
Pathogenic
(Oct 2, 2014)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504250.1
Pathogenic
(May 31, 2016)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504251.1
Likely pathogenic
(May 31, 2016)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504252.1
Pathogenic
(Oct 2, 2014)
no assertion criteria providedliterature only
  • Ovarian Neoplasms[MeSH | MedGen]
somaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504253.1
Likely pathogenic
(May 13, 2016)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504254.1
Likely pathogenic
(May 31, 2016)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504255.1
Likely pathogenic
(May 31, 2016)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504256.1
Likely pathogenic
(May 31, 2016)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504257.1
Likely pathogenic
(May 31, 2016)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504258.1
Likely pathogenic
(Jul 14, 2015)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504260.1
Likely pathogenic
(May 31, 2016)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504261.1
Likely pathogenic
(May 31, 2016)
no assertion criteria providedliterature only
  • Papillary renal cell carcinoma, sporadic[MeSH | MedGen]
somaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504262.1
Likely pathogenic
(May 31, 2016)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000504264.1
Pathogenic
(May 7, 2015)
no assertion criteria providedliterature only
  • Cystic epithelial invagination containing papillae lined by columnar epithelium
somatic
    Yale Center for Mendelian Genomics,Yale UniversitySCV000784606.1
    not provided
    (Mar 10, 2016)
    no assertion providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
    Study description
    SCV000504263.1
    not provided
    (Mar 10, 2016)
    no assertion providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
    Study description
    SCV000504259.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submitters3653germline, somaticnot providednot provided
    Database of Curated Mutations (DoCM)not providednot providedsomaticnot providednot providednot provided
    EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot providednot providedgermlinenot providednot providednot provided
    GeneReviewsnot providednot providedsomaticnot providednot providednot provided
    Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine3649somaticnot providednot providednot provided
    OMIMnot providednot providedsomaticnot providednot providednot provided
    Yale Center for Mendelian Genomics,Yale Universitynot provided4somaticnot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Dec 9, 2018

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